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Gene: Mboat7 MGI:1924832

Gene Summary

Name:

membrane bound O-acyltransferase domain containing 7

Synonyms:

Lpiat1, mBB1, 5730589L02Rik, Leng4

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased lymphocyte cell number	Mboat7^{tm1b(KOMP)Wtsi}	HET	Early adult	9.53×10^-06
preweaning lethality, incomplete penetrance	Mboat7^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
decreased lean body mass	Mboat7^{tm1b(KOMP)Wtsi}	HET	Early adult	1.40×10^-05
small seminal vesicle	Mboat7^{tm1b(KOMP)Wtsi}	HET	Early adult	0.00

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lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Wholemount images	heterozygote	100% (2 of 2)
Aorta	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cartilage tissue	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Eye	Wholemount images	heterozygote	50% (1 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	50% (1 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	50% (1 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Pituitary gland	Wholemount images	heterozygote	100% (2 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Spleen	Wholemount images	heterozygote	50% (1 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Trachea	Wholemount images	heterozygote	100% (2 of 2)
Vascular system	Wholemount images	heterozygote	50% (1 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 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%
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%
esophagus	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%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
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%
vascular system	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.

Echo

M-Mode Images

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

19 Images

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MicroCT E18.5

Embryo reconstruction

3 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel B FCS file(s)

8 Images

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Immunophenotyping

Panel A FCS file(s)

8 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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Human diseases caused by Mboat7 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 Mboat7 (1 diseases)
Human diseases predicted to be associated with Mboat7 (886 diseases)

The table below shows human diseases associated to Mboat7 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Intellectual Developmental Disorder, Autosomal Recessive 57		Polymicrogyria	OMIM:617188

The table below shows human diseases predicted to be associated to Mboat7 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Band Heterotopia	Hydrocephalus, Plagiocephaly, Lateral ventricle dilatation, Agenesis of corpus callosum, Ventricu...	OMIM:600348
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis	OMIM:123155
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Frontal bossing, Orbital craniosynostosis, Hydrocephalus, Dolichocephaly, Dandy-Walker malformation	ORPHA:1538
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Craniosynostosis 6	Turricephaly, Craniosynostosis, Parietal foramina, Spina bifida occulta, Brachycephaly, Plagiocep...	OMIM:616602
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation, Brachycephaly	OMIM:619972
Kleeblattschaedel	Hydrocephalus, Cloverleaf skull, Craniosynostosis	OMIM:148800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Spina bifida occulta, Brachycephaly, Lateral ventricle dilatation, Lambdoidal crani...	OMIM:618736
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Gait disturbance, Anorexia	ORPHA:79283
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Lissencephaly, X-Linked, 1	Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum...	OMIM:300067
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, Difficulty walking, Dystonia, Lethargy	OMIM:617829
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:604213
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Frontal bossing, Partial agenesis of the corpus callosum, Brachycephaly, Plagiocephaly, Lateral v...	OMIM:617296
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig...	ORPHA:101029
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Frontal bossing, Lateral ventricle dilatation	OMIM:618330
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Choreoathetosis, Lethargy, Paroxysmal lethargy	OMIM:606777
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Lissencephaly 3	Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr...	OMIM:611603
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Frontal Encephalocele	Encephalocele, Spina bifida, Hydrocephalus, Dolichocephaly, Calvarial skull defect	ORPHA:1931
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:607432
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum, Brachycephaly	OMIM:619244
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Lethargy	OMIM:605899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Gómez-López-Hernández Syndrome	Hydrocephalus, Turricephaly, Brachycephaly, Midface retrusion	ORPHA:1532
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy, Ataxia, Dystonia	OMIM:618224
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Macrocephaly, Benign Familial	Frontal bossing, Biparietal narrowing, Ventriculomegaly, Dolichocephaly	OMIM:153470
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Focal dystonia, Bradykinesia, G...	ORPHA:101150
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation, Brachycephaly	ORPHA:85290
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy, Difficulty walking	OMIM:613710
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Ataxia	ORPHA:622
Methylmalonic Acidemia With Homocystinuria	Lethargy, Gait disturbance	ORPHA:26
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Brachycephaly, Plagiocephaly, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Ataxia	OMIM:618683
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Malan Overgrowth Syndrome	Frontal bossing, Scaphocephaly, Plagiocephaly, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:420179
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Congenital Hydrocephalus	Frontal bossing, Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Acalvaria	Holoprosencephaly, Hydrocephalus, Calvarial skull defect, Spina bifida	ORPHA:945
Craniotelencephalic Dysplasia	Frontal bossing, Craniosynostosis, Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Developmental And Epileptic Encephalopathy 40	Choreoathetosis, Lethargy	OMIM:617065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Agenesis of corpus callosum,...	OMIM:618577
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Hydrocephalus, Brachycephaly, Abnormal shape of the occiput, Brachyturricephaly,...	OMIM:218350
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Severe Canavan Disease	Inability to walk, Lethargy, Oral-pharyngeal dysphagia	ORPHA:314911
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle	OMIM:619725
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Tremor, Choreoathetosis, Dysphagia, Lethargy	OMIM:233910
Fried Syndrome	Hydrocephalus, Thickened calvaria	ORPHA:85335
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Early Myoclonic Encephalopathy	Lethargy, Dysphagia	ORPHA:1935
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis	OMIM:606445
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Classic Glucose Transporter Type 1 Deficiency Syndrome	Choreoathetosis, Lethargy, Ataxia, Dystonia	ORPHA:71277
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Frontal bossing, Lateral ventricle dilatation	OMIM:600721
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Congenital Disorder Of Glycosylation, Type Iiy	Agenesis of corpus callosum, Brachycephaly, Ventriculomegaly	OMIM:620200
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Lateral ventricle dilatation, Extra-axial cerebrospinal fluid accumulation, Spina bifida occulta,...	OMIM:618291
1Q21.1 Microduplication Syndrome	Frontal bossing, Hydrocephalus	ORPHA:250994
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Frontal bossing, Ventriculomegaly, Occipital encephalocele, Meningocele, Lateral ventricle dilata...	ORPHA:397715
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Hyperactivity	OMIM:274270
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Lateral ventricle dilatation, Partial agenesis of the corpus callosum	OMIM:619517
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:300573
Pyruvate Dehydrogenase E1-Alpha Deficiency	Partial agenesis of the corpus callosum, Increased CSF lactate, Lateral ventricle dilatation, Abn...	ORPHA:79243
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation, Craniosynostosis	ORPHA:284417
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Head titubation, Truncal ataxia, Dysmetria, Dystonia, Lethargy	OMIM:250620
Intellectual Developmental Disorder, Autosomal Dominant 48	Plagiocephaly, Lateral ventricle dilatation, Dilated fourth ventricle	OMIM:617751
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Brachycephaly, Plagiocephaly, Dolichocephaly, Ventriculomegaly	ORPHA:272
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,...	OMIM:604317
Pontocerebellar Hypoplasia, Type 1A	Lateral ventricle dilatation	OMIM:607596
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy, Ataxia, Dystonia	OMIM:246900
Cyclic Vomiting Syndrome	Lethargy, Attention deficit hyperactivity disorder, Ataxia, Anorexia	OMIM:500007
Classic Galactosemia	Postural tremor, Ataxia, Depression, Gait disturbance, Gait imbalance, Attention deficit hyperact...	ORPHA:79239
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Greig Cephalopolysyndactyly Syndrome	Frontal bossing, Craniosynostosis, Hydrocephalus, Scaphocephaly, Abnormal calvaria morphology, Do...	OMIM:175700
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Glutamine Deficiency, Congenital	Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation	OMIM:610015
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle	ORPHA:544488
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Central Diabetes Insipidus	Lethargy, Polydipsia, Anorexia, Depression	ORPHA:178029
Short Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Dystonia	ORPHA:26792
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation, Brachycephaly	OMIM:619995
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation	OMIM:615716
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lethargy, Ataxia, Dysphagia, Dystonia	OMIM:618226
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:619302
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Lethargy, Agitation	ORPHA:276608
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Choreoathetosis, Dystonia, Episodic ataxia, Lethargy	OMIM:312170
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation	OMIM:221770
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Frontal bossing, Lateral ventricle dilatation	OMIM:614105
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Frontal bossing, Hydrocephalus, Dolichocephaly, Dandy-Walker malformation	OMIM:220220
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation	OMIM:608629
Hereditary Central Diabetes Insipidus	Lethargy, Polydipsia	ORPHA:30925
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ...	ORPHA:101030
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:304100
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Frontal bossing, Hydrocephalus, Craniosynostosis, Dolichocephaly	ORPHA:1516
Leukoencephalopathy With Vanishing White Matter 1	Lethargy, Unsteady gait, Gait disturbance	OMIM:603896
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Choreoathetosis, Lethargy, Anorexia, Dystonia	ORPHA:79312
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Truncal titubation, Inability to walk, Dysphagia, Opisthotonus, Gait ataxia, Dystonia, Lethargy, ...	OMIM:607483
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly, Ventriculomegaly	ORPHA:521390
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Greig Cephalopolysyndactyly Syndrome	Frontal bossing, Hydrocephalus, Agenesis of corpus callosum, Craniosynostosis	ORPHA:380
N-Acetylglutamate Synthase Deficiency	Lethargy, Aggressive behavior	OMIM:237310
Basel-Vanagaite-Smirin-Yosef Syndrome	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum	ORPHA:464738
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Dilated third ventricle, Ventriculomegaly	OMIM:615574
Cach Syndrome	T2 hypointense thalamus, Lateral ventricle dilatation	ORPHA:135
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly	ORPHA:352682
Pyruvate Dehydrogenase Deficiency	Ataxia, Tremor, Choreoathetosis, Gait disturbance, Dystonia, Lethargy	ORPHA:765
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Chromosome 6Q24-Q25 Deletion Syndrome	Frontal bossing, Hydrocephalus, Lateral ventricle dilatation, Dolichocephaly, Agenesis of corpus ...	OMIM:612863
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Dandy-Walker malformation	OMIM:618606
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Lethargy	OMIM:610498
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:3078
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lethargy, Dysphagia	OMIM:613561
Lethal Infantile Mitochondrial Myopathy	Lethargy	ORPHA:254857
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy, Ataxia	OMIM:618225
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation	OMIM:617854
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Dilated third ventricle, Abnormal cerebrospinal fluid morphology	ORPHA:314404
Hemimegalencephaly	Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology	ORPHA:99802
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Brachycephaly, Plagiocephaly, Dolichocephaly, Agenesis of corpus callos...	OMIM:615433
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Crouzon Syndrome	Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Multiple suture craniosynostosis, Mi...	ORPHA:207
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Frontal bossing, Plagiocephaly, Lateral ventricle dilatation, Dolichocephaly, Midface retrusion	ORPHA:457279
Aicardi Syndrome	Spina bifida, Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dil...	OMIM:304050
Developmental And Epileptic Encephalopathy 65	Plagiocephaly, Ventriculomegaly	OMIM:618008
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly, Colpocephaly, Midface retrusion	OMIM:618731
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Choreoathetosis, Lethargy, Dystonia	ORPHA:289916
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Pachygyria, Partial agenesis of the corpus callosum, Simplified gyra...	OMIM:616212
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Central Precocious Puberty In Male	Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma	ORPHA:649929
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum	ORPHA:2512
Hyperinsulinism Due To Ucp2 Deficiency	Lethargy, Agitation, Polyphagia	ORPHA:276556
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy, Ataxia	OMIM:618228
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Flat occiput, Partial agenesis of the corpus callosum, Plagiocephaly, Lateral ventricle dilatatio...	ORPHA:300570
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Citrullinemia Type Ii	Restlessness, Hyperactivity, Hypertriglyceridemia, Aggressive behavior, Tremor, Abnormal eating b...	ORPHA:247585
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Combined Oxidative Phosphorylation Deficiency 52	Lethargy, Anorexia	OMIM:619386
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly	ORPHA:93262
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Frontal bossing, Hydrocephalus, Coronal craniosynostosis, Midface re...	OMIM:112240
Pseudo-Torch Syndrome 2	Lateral ventricle dilatation, Ventriculomegaly	OMIM:617397
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Partial agenesis of the corpus callosum, Simplified gyral pattern, Periventricular heterotopia	OMIM:616171
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Flat occiput, Brachycephaly	ORPHA:2898
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Dysmetria, Dysdiadochokinesis, Truncal ataxia, Lethargy, Spastic gait	OMIM:238970
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Slc35A2-Cdg	Lateral ventricle dilatation, Dandy-Walker malformation, Craniosynostosis	ORPHA:356961
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Lethargy, Agitation, Polyphagia	ORPHA:276575
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, Gait imbalance	OMIM:618120
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy, Gait disturbance	OMIM:236270
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Lethargy, Agitation, Polyphagia	ORPHA:276580
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Susac Syndrome	Lethargy, Apathy, Gait ataxia	ORPHA:838
Muenke Syndrome	Plagiocephaly, Hydrocephalus, Coronal craniosynostosis, Brachycephaly	ORPHA:53271
Hyperinsulinism Due To Hnf1A Deficiency	Lethargy, Agitation, Polyphagia	ORPHA:324575
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Anorexia	ORPHA:49827
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Frontal bossing, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Brachycephaly, Ventriculomegaly	OMIM:109120
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Frontal bossing, Hydrocephalus	ORPHA:2181
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Lethargy, Agitation, Abnormal repetitive mannerisms, Ataxia	ORPHA:927
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly, Agenesis of corpus callosum	ORPHA:459074
Thanatophoric Dysplasia Type 2	Encephalocele, Frontal bossing, Cloverleaf skull, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty...	OMIM:615191
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul...	OMIM:616034
Hyperlysinuria With Hyperammonemia	Lethargy	OMIM:238750
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:488627
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation	OMIM:618914
Citrullinemia Type I	Lethargy, Torticollis, Ataxia	ORPHA:247525
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Typhoid	Tremor, Lethargy, Ataxia	ORPHA:99745
Vitamin B12-Unresponsive Methylmalonic Acidemia	Choreoathetosis, Lethargy, Ataxia	ORPHA:27
Distal Deletion 10Q	Frontal bossing, Craniosynostosis, Brachycephaly, Lateral ventricle dilatation, Spina bifida occulta	ORPHA:96148
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce...	ORPHA:169154
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Thanatophoric Dysplasia	Frontal bossing, Cloverleaf skull, Hydrocephalus, Midface retrusion, Ventriculomegaly	ORPHA:2655
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Dihydropyrimidinase Deficiency	Lethargy	OMIM:222748
Developmental And Epileptic Encephalopathy 41	Inability to walk, Lethargy	OMIM:617105
Riboflavin Deficiency	Lethargy	OMIM:615026
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration, Microlis...	ORPHA:89844
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Loss of ambulation, Lethargy, Ataxia, Gait disturbance	OMIM:615838
Holocarboxylase Synthetase Deficiency	Lethargy, Ataxia, Anorexia	ORPHA:79242
Den Hoed-De Boer-Voisin Syndrome	Brachycephaly, Midface retrusion, Lateral ventricle dilatation, Ventriculomegaly	OMIM:619229
Combined Oxidative Phosphorylation Defect Type 39	Lateral ventricle dilatation, Increased CSF lactate	ORPHA:565624
Congenital Disorder Of Glycosylation, Type Iig	Lateral ventricle dilatation, Midface retrusion	OMIM:611209
Temple Syndrome	Frontal bossing, Hydrocephalus, Decreased response to growth hormone stimulation test	ORPHA:254516
Pontocerebellar Hypoplasia, Type 6	Lethargy	OMIM:611523
Hogue-Janssen Syndrome 2	Plagiocephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:616362
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Partial agenesis of the corpus callosum, Trigonocephaly, Dilated third ...	ORPHA:434179
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus, Turricephaly, Brachycephaly, Craniosynostosis	ORPHA:171839
Crouzon Syndrome	Frontal bossing, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, Lambdoidal craniosynost...	OMIM:123500
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Brachycephaly, Decreased response to growth hormone stimulation test, Ventriculome...	OMIM:609757
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Alexander Disease Type I	Hydrocephalus, Abnormal thalamic MRI signal intensity	ORPHA:363717
Idiopathic Intracranial Hypertension	Lethargy, Depression	ORPHA:238624
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Vitamin B12-Responsive Methylmalonic Acidemia	Lethargy	ORPHA:28
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation	OMIM:619847
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy	OMIM:618232
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Pyruvate Dehydrogenase E3 Deficiency	Lethargy, Ataxia	ORPHA:2394
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Glutaric Acidemia Type 3	Lethargy, Impulsivity	ORPHA:35706
Isolated Atp Synthase Deficiency	Lethargy, Ataxia, Dystonia	ORPHA:254913
Hemochromatosis, Type 2A	Lethargy	OMIM:602390
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum	OMIM:164180
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Insulinoma	Tremor, Lethargy, Polyphagia	ORPHA:97279
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:572798
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Subcortical heterotopia, Agyria, Partial agenesis of the corpus ...	OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Brachycephaly, Craniosynostosis	OMIM:614416
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Hjv Or Hamp-Related Hemochromatosis	Lethargy	ORPHA:79230
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Frontal bossing, Hydrocephalus, Colpocephaly, Agenesis of corpus cal...	OMIM:615219
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Sagittal craniosynostosis, Hydrocephalus, Scaphocephaly, Brachycephaly, Trigonocephaly, Agenesis ...	ORPHA:459061
Cole-Carpenter Syndrome 2	Frontal bossing, Turricephaly, Hydrocephalus, Lambdoidal craniosynostosis, Coronal craniosynostos...	OMIM:616294
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hydrocephalus, Brachycephaly, Prominent oc...	OMIM:220210
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Frontal bossing, Lateral ventricle dilatation, Small pituitary gland, Ventriculomegaly	OMIM:619479
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
Bainbridge-Ropers Syndrome	Trigonocephaly, Lateral ventricle dilatation, Scaphocephaly	OMIM:615485
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Ataxia, Aggressive behavior, Gait ataxia, Dystonia, Lethargy	OMIM:618321
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy, Anorexia	OMIM:611590
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Hyperlipidemia	ORPHA:2089
Basal Cell Nevus Syndrome 2	Frontal bossing, Hydrocephalus	OMIM:620343
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation	ORPHA:2148
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria	ORPHA:370980
Carnitine Palmitoyl Transferase 1A Deficiency	Lethargy, Transient hyperlipidemia	ORPHA:156
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Mosaic Trisomy 1	Frontal bossing, Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:1692
Thyroid Dyshormonogenesis 1	Lethargy	OMIM:274400
1Q44 Microdeletion Syndrome	Frontal bossing, Hydrocephalus, Biparietal narrowing, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:238769
Coach Syndrome 2	Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Agen...	OMIM:207950
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Lethargy	OMIM:619064
Weaver Syndrome	Lateral ventricle dilatation, Flat occiput, Ventriculomegaly	OMIM:277590
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Ataxia	ORPHA:42
Gorlin Syndrome	Frontal bossing, Hydrocephalus, Brachycephaly	ORPHA:377
Idiopathic Congenital Hypothyroidism	Lethargy	ORPHA:95717
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Choroid plexus cyst	ORPHA:293725
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Edinburgh Malformation Syndrome	Frontal bossing, Hydrocephalus	ORPHA:1895
Cog5-Cdg	Lateral ventricle dilatation	ORPHA:263487
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lethargy, Ataxia	OMIM:614299
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Ventricul...	OMIM:225790
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Holoprosencephaly 14	Frontal bossing, Ventriculomegaly, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Hydr...	OMIM:619895
Pallister-Hall-Like Syndrome	Occipital encephalocele, Anterior hypopituitarism, Hydrocephalus, Hypothalamic hamartoma	OMIM:241800
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Multiple Mitochondrial Dysfunctions Syndrome 1	Neonatal death, Lethargy, Opisthotonus	OMIM:605711
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Ataxia	OMIM:237300
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Frontal bossing, Hydrocephalus, Ventriculomegaly	OMIM:603387
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tremor, Lethargy, Agitation	ORPHA:263455
Ogden Syndrome	Lethargy, Torticollis, Shuffling gait	ORPHA:276432
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Gabriele-De Vries Syndrome	Lateral ventricle dilatation, Dolichocephaly	OMIM:617557
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly	OMIM:614195
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Walker-Warburg Syndrome	Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Macrogy...	ORPHA:899
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Patent ductus arteriosus, Abnormality of neuronal migration	OMIM:300049
Leber Congenital Amaurosis	Encephalocele, Abnormality of neuronal migration	ORPHA:65
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Abnormality of neuronal migration	OMIM:608840
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Carnitine Palmitoyltransferase I Deficiency	Lethargy, Transient hyperlipidemia	OMIM:255120
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Plagiocephaly, Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:619833
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Decreased calvarial ossification, Dolichocephaly, Ventriculom...	OMIM:617866
Maple Syrup Urine Disease	Lethargy, Ataxia	OMIM:248600
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Medulloblastoma	Ataxia, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar ataxia associated with qua...	ORPHA:616
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Spastic ataxia, Lethargy, Dystonia	OMIM:277410
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Frontal bossing, Hydrocephalus	OMIM:300863
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Propionic Acidemia	Lethargy, Dystonia	OMIM:606054
Bresek Syndrome	Plagiocephaly, Hydrocephalus	ORPHA:85284
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Carnitine Palmitoyltransferase Ii Deficiency	Pachygyria, Hydrocephalus, Hyperlipidemia, Abnormality of neuronal migration, Renal tubular epith...	ORPHA:157
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly	OMIM:620156
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Lethargy, Limb dystonia	OMIM:604377
Aicardi-Goutieres Syndrome 9	Lateral ventricle dilatation	OMIM:619487
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Bipolar affective disorder, Ataxia, Tremor, Depression, Bradykinesia, Gait ataxia...	ORPHA:254892
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Lateral ventricle dilatation	ORPHA:2822
Hypercalcemia, Infantile, 1	Lethargy	OMIM:143880
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb...	OMIM:308240
Isovaleric Acidemia	Lethargy	OMIM:243500
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Hydrocephalus, Brachycephaly, Lambdoidal craniosynostosis, Coronal craniosynosto...	OMIM:207410
Prader-Willi Syndrome Due To Translocation	Lateral ventricle dilatation, Flat occiput, Decreased response to growth hormone stimulation test...	ORPHA:177907
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Kufor-Rakeb Syndrome	Oculogyric crisis, Blepharospasm, Bradykinesia, Apathy, Gait disturbance, Difficulty walking, Dys...	ORPHA:306674
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Frontal bossing, Hydrocephalus, Ventriculomegaly	ORPHA:60040
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Decreased thalamic volume, Agen...	ORPHA:370959
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Thickened calvaria, Ventriculomegaly	OMIM:304340
Combined Oxidative Phosphorylation Deficiency 11	Neonatal death, Lethargy, Stillbirth	OMIM:614922
Multifocal Atrial Tachycardia	Lethargy	ORPHA:3282
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy	OMIM:600649
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
Pfeiffer Syndrome	Hydrocephalus, Coronal craniosynostosis, Cloverleaf skull, Brachyturricephaly	OMIM:101600
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Tremor, Lethargy, Ataxia	OMIM:201100
Carnitine Deficiency, Systemic Primary	Lethargy	OMIM:212140
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation, Dolichocephaly	OMIM:310400
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Frontal bossing, Craniosynostosis	ORPHA:1064
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Hydro...	ORPHA:91348
Meningococcal Meningitis	Lethargy, Anorexia	ORPHA:33475
Temple Syndrome	Frontal bossing, Hydrocephalus	OMIM:616222
Desmosterolosis	Abnormal cortical gyration, Pachygyria, Patent ductus arteriosus, Hydrocephalus, Abnormality of n...	ORPHA:35107
Apert Syndrome	Frontal bossing, Cloverleaf skull, Hydrocephalus, Acrobrachycephaly, Brachyturricephaly, Agenesis...	ORPHA:87
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele	ORPHA:1914
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Scrub Typhus	Tremor, Lethargy	ORPHA:83317
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation, Brachycephaly	OMIM:263520
Arachnoiditis	Hydrocephalus	ORPHA:137817
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Thanatophoric Dysplasia, Type I	Frontal bossing, Hydrocephalus, Cloverleaf skull, Midface retrusion	OMIM:187600
Albers-Schönberg Osteopetrosis	Frontal bossing, Hydrocephalus	ORPHA:53
Evans Syndrome	Lethargy	ORPHA:1959
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Lethargy, Opisthotonus	OMIM:210200
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Lethargy	OMIM:614857
Chromosome 6Pter-P24 Deletion Syndrome	Frontal bossing, Hydrocephalus, Brachycephaly, Agenesis of corpus callosum, Midface retrusion, Da...	OMIM:612582
Infantile Liver Failure Syndrome 2	Lethargy	OMIM:616483
Oculocerebrocutaneous Syndrome	Hydrocephalus, Calvarial skull defect, Dandy-Walker malformation, Ventriculomegaly	ORPHA:1647
Peho Syndrome	Hydrocephalus, Biparietal narrowing, Ventriculomegaly, Midface retrusion	ORPHA:2836
Cole-Carpenter Syndrome	Communicating hydrocephalus, Frontal bossing, Turricephaly, Midface retrusion	ORPHA:2050
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly	OMIM:615630
Thanatophoric Dysplasia Type 1	Frontal bossing, Hydrocephalus, Cloverleaf skull, Ventriculomegaly	ORPHA:1860
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Posterior plagiocephaly, Late...	OMIM:615873
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Frontal bossing, Hydrocephalus	ORPHA:163966
Holoprosencephaly 7	Frontal bossing, Flat occiput, Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the c...	OMIM:610828
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Cutis Laxa, Autosomal Recessive, Type Iib	Frontal bossing, Hydrocephalus, Agenesis of corpus callosum, Midface retrusion	OMIM:612940
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Turricephaly, Cloverleaf skull, Craniosynostosis, Hydrocephalus, Dolichocephaly, Midface retrusion	ORPHA:1555
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Scaphocephaly, Cranial asymmetry	OMIM:614886
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:617201
Developmental And Epileptic Encephalopathy 49	Frontal bossing, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malformation, Ventriculo...	OMIM:617281
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Staphylococcal Necrotizing Pneumonia	Lethargy, Addictive alcohol use	ORPHA:36238
Diabetic Embryopathy	Frontal bossing, Hydrocephalus, Spinal dysraphism	ORPHA:1926
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Frontal bossing, Turricephaly, Hydrocephalus, Plagiocephaly, Ventriculomegaly	OMIM:613603
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Craniosynostosis 2	Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep...	OMIM:604757
Familial Thyroid Dyshormonogenesis	Lethargy	ORPHA:95716
Pfeiffer Syndrome Type 1	Aqueductal stenosis, Brachycephaly, Bicoronal synostosis, Midface retrusion	ORPHA:93258
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Pachygyria, Hydrocephalus, Hyperlipidemia, Abnormality of neuronal migration, Renal tubular epith...	ORPHA:228308
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis	ORPHA:86843
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Increased cir...	ORPHA:91350
Intellectual Developmental Disorder, Autosomal Dominant 65	Turricephaly, Agenesis of corpus callosum, Noncommunicating hydrocephalus	OMIM:619320
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Skull asymmetry, Dandy-Walker malformation	OMIM:612938
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Alkuraya-Kucinskas Syndrome	Plagiocephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:617822
Czeizel-Losonci Syndrome	Spina bifida, Hydrocephalus, Myelomeningocele, Thin calvarium, Spina bifida occulta	ORPHA:2437
Trisomy 1Q	Frontal bossing, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:261344
Magel2-Related Prader-Willi-Like Syndrome	Impulsivity, Abnormal temper tantrums, Compulsive behaviors, Skin-picking, Lethargy, Polyphagia	ORPHA:398069
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia	ORPHA:255138
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy	OMIM:201450
Sim1-Related Prader-Willi-Like Syndrome	Lethargy, Skin-picking, Polyphagia, Abnormal temper tantrums	ORPHA:398079
Scalp-Ear-Nipple Syndrome	Frontal bossing, Lateral ventricle dilatation, Calvarial skull defect	OMIM:181270
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Death in infancy	ORPHA:1493
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus, Cranial hyperostosis	OMIM:259710
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Cerebrooculonasal Syndrome	Encephalocele, Frontal bossing, Ventriculomegaly, Craniosynostosis, Proboscis, Hydrocephalus, Bra...	OMIM:605627
3-Hydroxy-3-Methylglutaric Aciduria	Lethargy, Ataxia, Apathy, Anorexia	ORPHA:20
Methylcobalamin Deficiency Type Cble	Lethargy	ORPHA:2169
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Prominent occiput, Lateral ventricle dilatation	OMIM:300868
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Biparietal narrowing	ORPHA:220497
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
3C Syndrome	Frontal bossing, Hydrocephalus, Prominent occiput, Dandy-Walker malformation, Ventriculomegaly	ORPHA:7
Neurocutaneous Melanocytosis	Death in infancy, Meningocele, Abnormality of neuronal migration	ORPHA:2481
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Beare-Stevenson Cutis Gyrata Syndrome	Cloverleaf skull, Flat occiput, Craniosynostosis, Hydrocephalus, Agenesis of corpus callosum, Mid...	OMIM:123790
Rhombencephalosynapsis	Fusion of the left and right thalami, Hydrocephalus, Ventriculomegaly	ORPHA:59315
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lethargy, Ataxia, Gait disturbance	ORPHA:395
Linear Nevus Sebaceus Syndrome	Frontal bossing, Ventriculomegaly, Prominent occiput, Plagiocephaly, Biparietal narrowing, Dandy-...	ORPHA:2612
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Apert Syndrome	Sagittal craniosynostosis, Craniosynostosis, Hydrocephalus, Brachycephaly, Acrobrachycephaly, Lam...	OMIM:101200
Mitochondrial Trifunctional Protein Deficiency	Lethargy, Tip-toe gait	ORPHA:746
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus, Midface retrusion	OMIM:224400
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Frontal bossing, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1812
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Lethargy	OMIM:251000
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Midface retrusion, Decreased response to growth hormone st...	ORPHA:1855
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Developmental And Epileptic Encephalopathy 31B	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620352
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Lethargy	OMIM:201475
Osteopetrosis, Autosomal Recessive 1	Frontal bossing, Hydrocephalus, Craniosynostosis	OMIM:259700
Fg Syndrome Type 1	Craniosynostosis, Hydrocephalus, Prominent occiput, Plagiocephaly, Small pituitary gland, Ventric...	ORPHA:93932
16Q24.3 Microdeletion Syndrome	Frontal bossing, Colpocephaly, Biparietal narrowing, Ventriculomegaly	ORPHA:261250
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Dengue Fever	Lethargy	ORPHA:99828
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Frontal bossing, Decreased response to growth hormone stimulation test, Colpocephaly, Agenesis of...	OMIM:617260
Achondroplasia	Frontal bossing, Hydrocephalus, Parietal bossing	ORPHA:15
Li-Ghorbani-Weisz-Hubshman Syndrome	Patent ductus arteriosus, Periventricular heterotopia	OMIM:618974
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Biparietal narrowing	ORPHA:2318
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus, Dolichocephaly	ORPHA:2969
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Hypothalamic ha...	OMIM:619775
Encephalitis Lethargica	Tremor, Lethargy	ORPHA:83600
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Attention deficit hyperactivity disorder, Lethargy, Depression	ORPHA:90674
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Ataxia	OMIM:201470
Craniopharyngioma	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hydrocephalus, Pituitary hypothyroi...	ORPHA:54595
Hydrolethalus	Anencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2189
Ebola Hemorrhagic Fever	Lethargy, Dysphagia	ORPHA:319218
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogy...	ORPHA:2211
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Multiple Sulfatase Deficiency	Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Symptomatic Form Of Hfe-Related Hemochromatosis	Lethargy, Apathy	ORPHA:465508
Congenital Disorder Of Glycosylation, Type Ig	Lethargy	OMIM:607143
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Biparietal narrowing	ORPHA:220493
Transcobalamin Ii Deficiency	Lethargy, Ataxia	OMIM:275350
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Plagiocephaly, Hydrocephalus, Midface retrusion	OMIM:239300
Late-Onset Isolated Acth Deficiency	Lethargy, Decreased circulating cortisol level, Anorexia	ORPHA:199299
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hydrocephalus, Partial agenesis of the corpus callosum, Prominent occiput, Colpocephaly, Lateral ...	OMIM:210710
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation	OMIM:614098
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Joubert Syndrome	Encephalocele, Hydrocephalus, Biparietal narrowing	ORPHA:475
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Lethargy, Increased circulating free fatty acid level	ORPHA:71212
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation	OMIM:618367
Lowry-Maclean Syndrome	Trigonocephaly, Hydrocephalus, Craniosynostosis	ORPHA:2409
Triploidy	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy	OMIM:212138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Agenesis of corpus callosum	OMIM:615249
Iniencephaly	Encephalocele, Spina bifida, Abnormal occipital bone morphology, Hydrocephalus, Myelomeningocele,...	ORPHA:63259
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Increased circulating free fatty acid level	ORPHA:26793
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Ventriculomegaly	OMIM:614576
Mosaic Variegated Aneuploidy Syndrome 1	Hydrocephalus, Brachycephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Midface ret...	OMIM:257300
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:619869
Fanconi Anemia, Complementation Group I	Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test	OMIM:609053
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Cloverleaf skull	ORPHA:93259
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Biotinidase Deficiency	Lethargy, Ataxia	OMIM:253260
Halperin-Birk Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holoprosencephaly	OMIM:618651
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy, Opisthotonus	OMIM:210210
Joubert Syndrome 2	Encephalocele, Frontal bossing, Enlarged fossa interpeduncularis, Hydrocephalus, Dolichocephaly	OMIM:608091
Fructose-1,6-Bisphosphatase Deficiency	Lethargy	OMIM:229700
Methylmalonic Aciduria, Cbla Type	Tremor, Lethargy	OMIM:251100
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Episodic ataxia, Lethargy, Ataxia	OMIM:311250
Peroxisome Biogenesis Disorder 13A (Zellweger)	Neonatal death, Gray matter heterotopia, Polymicrogyria	OMIM:614887
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Holoprosencephaly, Dolichocephaly, Agenesis of corpus callosum, Midface retrusion,...	OMIM:612651
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy, Depression	ORPHA:99832
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Chromosome 17P13.1 Deletion Syndrome	Turricephaly, Spina bifida, Hydrocephalus, Brachycephaly, Plagiocephaly	OMIM:613776
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Anoperineal fistula, Thromb...	OMIM:301074
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Achard Syndrome	Broad skull, Brachycephaly	OMIM:100700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lethargy	OMIM:608836
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele, Dolichocephaly, Platybasia, Thickened calvaria	OMIM:130720
Chromosome 1P36 Deletion Syndrome, Distal	Frontal bossing, Hydrocephalus, Brachycephaly, Lateral ventricle dilatation, Agenesis of corpus c...	OMIM:607872
Emanuel Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:609029
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Frontal bossing, Hydrocephalus, Midface retrusion	OMIM:616482
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation	OMIM:614424
Mitochondrial Trifunctional Protein Deficiency 1	Lethargy	OMIM:609015
16P13.11 Microdeletion Syndrome	Holoprosencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration	ORPHA:261236
Necrotizing Enterocolitis	Lethargy	ORPHA:391673
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618929
Desmosterolosis	Frontal bossing, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:602398
Tetrasomy 5P	Hydrocephalus, Midface retrusion	ORPHA:3309
Citrullinemia, Classic	Lethargy, Ataxia	OMIM:215700
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus, Scaphocephaly, Craniosynostosis	OMIM:616914
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619312
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Trichinellosis	Lethargy, Apathy, Dysphagia	ORPHA:863
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus, Brachycephaly, Calvarial hyperostosis, Decreased growth hormone responses to growt...	OMIM:101800
Emanuel Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation	ORPHA:96170
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Frontal bossing, Sagittal craniosynostosis, Dysplastic corpus callosum, Lateral ventricle dilatat...	ORPHA:500150
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration, Abnormal neuron morphology	ORPHA:163681
Peroxisome Biogenesis Disorder 5A (Zellweger)	Athetosis, Lethargy	OMIM:614866
Knobloch Syndrome	Calvarial skull defect, Hydrocephalus, Occipital encephalocele, Midface retrusion	ORPHA:1571
Alobar Holoprosencephaly	Limb dystonia, Inability to walk, Depression, Apathy, Attention deficit hyperactivity disorder, D...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Limb dystonia, Inability to walk, Depression, Apathy, Attention deficit hyperactivity disorder, D...	ORPHA:93926
Lobar Holoprosencephaly	Limb dystonia, Inability to walk, Depression, Apathy, Attention deficit hyperactivity disorder, D...	ORPHA:93924
Semilobar Holoprosencephaly	Limb dystonia, Inability to walk, Depression, Apathy, Attention deficit hyperactivity disorder, D...	ORPHA:220386
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus, Bicoronal synostosis	OMIM:619951
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy	ORPHA:159
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Mucopolysaccharidosis, Type Ii	Hydrocephalus, Scaphocephaly, Dolichocephaly	OMIM:309900
Neu-Laxova Syndrome	Abnormal cortical gyration, Spina bifida, Pachygyria, Abnormality of neuronal migration, Macrogyr...	ORPHA:2671
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Lethargy	OMIM:277380
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Calvarial skull defect	ORPHA:974
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Abnormal occipital bone morphology, Hydrocephalu...	ORPHA:2356
Periventricular Nodular Heterotopia	Patent ductus arteriosus, Periventricular heterotopia	ORPHA:98892
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Ventriculomegaly	OMIM:614969
Renal Hypoplasia, Bilateral	Lethargy	ORPHA:97362
Holocarboxylase Synthetase Deficiency	Lethargy	OMIM:253270
Isolated Complex I Deficiency	Lethargy, Ataxia	ORPHA:2609
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Tremor, Lethargy	OMIM:277400
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Fanconi Anemia, Complementation Group B	Hydrocephalus, Ventriculomegaly	OMIM:300514
Raine Syndrome	Hydrocephalus, Brachycephaly, Plagiocephaly, Brachyturricephaly, Midface retrusion	OMIM:259775
Biotinidase Deficiency	Lethargy, Ataxia	ORPHA:79241
Cirrhosis, Familial	Lethargy	OMIM:215600
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis	ORPHA:79456
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Frontal bossing, Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus callosum, Bra...	OMIM:619512
15Q Overgrowth Syndrome	Turricephaly, Craniosynostosis, Hydrocephalus, Dolichocephaly, Agenesis of corpus callosum, Dandy...	ORPHA:314585
Spondyloepimetaphyseal Dysplasia, Krakow Type	Platybasia, Frontal bossing, Hydrocephalus	OMIM:618162
Congenital Myopathy 22A, Classic	Frontal bossing, Scaphocephaly, Normal pressure hydrocephalus	OMIM:620351
47,Xyy Syndrome	Increased circulating gonadotropin level, Hydrocephalus	ORPHA:8
Distal Triplication 15Q	Hydrocephalus, Dandy-Walker malformation, Craniosynostosis	ORPHA:314588
Achondroplasia	Frontal bossing, Hydrocephalus, Midface retrusion	OMIM:100800
Neurodegeneration And Seizures Due To Copper Transport Defect	Lethargy	OMIM:620306
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:620113
Methylmalonic Aciduria, Cblb Type	Lethargy	OMIM:251110
Galloway-Mowat Syndrome	Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration	ORPHA:2065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:613150
Holoprosencephaly 9	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Hydrocephal...	OMIM:610829
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Plagiocephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:457284
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Frontal bossing, Brachycephaly, Ventriculomegaly	OMIM:618188
Pearson Marrow-Pancreas Syndrome	Lethargy, Anorexia, Steatorrhea	OMIM:557000
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Methylmalonic Acidemia With Homocystinuria Type Cblf	Lethargy	ORPHA:79284
Argininosuccinic Aciduria	Lethargy, Ataxia	OMIM:207900
Shprintzen-Goldberg Craniosynostosis Syndrome	Frontal bossing, Craniosynostosis, Hydrocephalus, Dolichocephaly, Brachyturricephaly	OMIM:182212
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Genetic Transient Congenital Hypothyroidism	Lethargy	ORPHA:226316
Hurler Syndrome	Calvarial hyperostosis, Frontal bossing, Hydrocephalus, Cranial hyperostosis	OMIM:607014
Amoebiasis Due To Free-Living Amoebae	Lethargy, Ataxia, Restlessness	ORPHA:68
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy, Spastic gait, Progressive cerebellar ataxia	ORPHA:415
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Spondylocostal Dysostosis 4, Autosomal Recessive	Hydrocephalus, Spina bifida occulta, Myelomeningocele	OMIM:613686
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Patent ductus arteriosus, Gray matter heterotopia, Neonatal death, Pachyg...	OMIM:620024
Wolcott-Rallison Syndrome	Iron deficiency anemia, Neutropenia, Lymphocytosis, Decreased body weight	ORPHA:1667
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Frontal bossing, Craniosynostosis, Hydrocephalus, Brachycephaly, Midface retrusion	OMIM:245600
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:613001
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Trisomy 17P	Hydrocephalus	ORPHA:261290
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Midface retrusion, Decreased response to growth hormone stimulation test	OMIM:616007
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	OMIM:253800
Familial Hypoaldosteronism	Lethargy	ORPHA:427
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation	OMIM:300896
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	OMIM:264480
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus	ORPHA:1834
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy	OMIM:615751
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis, Weight loss	ORPHA:139402
Aymé-Gripp Syndrome	Craniosynostosis, Hydrocephalus, Brachycephaly, Plagiocephaly, Ventriculomegaly	ORPHA:1272
Cholera	Lethargy	ORPHA:173
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Lethargy	OMIM:620233
Genitopalatocardiac Syndrome	Hydrocephalus	ORPHA:2075
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:3301
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Lethargy, Ataxia	ORPHA:79282
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus, Biparietal narrowing	ORPHA:1454
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy	ORPHA:90673
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ...	OMIM:601390
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Cranial asymmetry	ORPHA:137634
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Cranial hyperostosis, Ventriculomegaly	OMIM:259720
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum	ORPHA:314679
Coffin-Lowry Syndrome	Death in early adulthood, Abnormality of neuronal migration	ORPHA:192
Monosomy 9Q22.3	Trigonocephaly, Hydrocephalus, Ventriculomegaly	ORPHA:77301
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus	ORPHA:1865
Lysinuric Protein Intolerance	Hypertriglyceridemia, Oral aversion, Steatorrhea, Hypercholesterolemia, Lethargy	ORPHA:470
Congenital Sialidosis Type 2	Hydrocephalus	ORPHA:93400
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep...	ORPHA:75857
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Dandy-Walker ma...	OMIM:615287
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Biliary, Renal, Neurologic, And Skeletal Syndrome	Frontal bossing, Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Lateral ventr...	OMIM:619534
1Q21.1 Microdeletion Syndrome	Frontal bossing, Hydrocephalus, Agenesis of corpus callosum	ORPHA:250989
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:616546
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract	OMIM:600145
Alexander Disease	Aqueductal stenosis, Frontal bossing, Hydrocephalus, Agenesis of corpus callosum	ORPHA:58
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Monosomy 18Q	Hydrocephalus, Biparietal narrowing, Secondary growth hormone deficiency	ORPHA:1600
Opitz-Kaveggia Syndrome	Plagiocephaly, Frontal bossing, Hydrocephalus, Partial agenesis of the corpus callosum	OMIM:305450
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Frontal bossing, Craniosynostosis, Dolichocephaly, Ventriculomegaly	ORPHA:2462
Mitochondrial Complex I Deficiency, Nuclear Type 1	Lethargy, Ataxia	OMIM:252010
Posterior Urethral Valve	Lethargy	ORPHA:93110
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Bohring-Opitz Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:605039
Hurler Syndrome	Frontal bossing, Hydrocephalus, Dolichocephaly	ORPHA:93473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Dandy-Walker malformation, Agenesis...	OMIM:236670
Khan-Khan-Katsanis Syndrome	Frontal bossing, Colpocephaly, Ventriculomegaly	OMIM:618460
7Q11.23 Microduplication Syndrome	Craniosynostosis, Hydrocephalus, Brachycephaly, Dolichocephaly, Ventriculomegaly	ORPHA:96121
Marshall-Smith Syndrome	Frontal bossing, Craniosynostosis, Hydrocephalus, Prominent occiput, Dolichocephaly, Agenesis of ...	OMIM:602535
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Jacobsen Syndrome	Trigonocephaly, Hydrocephalus, Flat occiput, Holoprosencephaly	OMIM:147791
Acromelic Frontonasal Dysostosis	Encephalocele, Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of corpus c...	OMIM:603671
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Holoprosencephaly	Encephalocele, Frontal bossing, Flat occiput, Hydrocephalus, Spinal dysraphism, Holoprosencephaly...	ORPHA:2162
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Frontal bossing, Craniosynostosis, Hydrocephalus, Plagiocephaly, Midface retrusion	ORPHA:536467
Otopalatodigital Syndrome Type 2	Encephalocele, Hydrocephalus, Myelomeningocele, Thickened calvaria	ORPHA:90652
Mucopolysaccharidosis Type 1	Hydrocephalus, Dolichocephaly	ORPHA:579
Complete Atrioventricular Septal Defect	Lethargy	ORPHA:1329
Basal Cell Nevus Syndrome 1	Frontal bossing, Hydrocephalus, Parietal bossing, Spina bifida	OMIM:109400
Cousin Syndrome	Hydranencephaly, Frontal bossing, Hydrocephalus	OMIM:260660
Hydranencephaly	Lethargy, Opisthotonus	ORPHA:2177
Cardiofaciocutaneous Syndrome	Frontal bossing, Hydrocephalus, Biparietal narrowing	ORPHA:1340
Intellectual Developmental Disorder, Autosomal Recessive 57	Polymicrogyria	OMIM:617188
Glycerol Kinase Deficiency	Lethargy, Hypertriglyceridemia	OMIM:307030
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Hypothalamic hamartoma	ORPHA:2754
Choreoacanthocytosis	Lateral ventricle dilatation	ORPHA:2388
Hereditary Fructose Intolerance	Lethargy	ORPHA:469
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Plagiocephaly, Colpocephaly	OMIM:620083
Whipple Disease	Hydrocephalus	ORPHA:3452
Neurooculorenal Syndrome	Ectopic posterior pituitary, Aqueductal stenosis, Partial agenesis of the corpus callosum, Hydroc...	OMIM:620305
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Patent ductus arteriosus, Periventricular heterotopia	OMIM:618870
Cardiofaciocutaneous Syndrome 1	Hydrocephalus, Dolichocephaly	OMIM:115150
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Lobar holoprosencephaly, Lisse...	ORPHA:468631
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Orofaciodigital Syndrome I	Frontal bossing, Hydrocephalus, Myelomeningocele, Hypothalamic hamartoma, Dolichocephaly, Agenesi...	OMIM:311200
Neuromuscular Oculoauditory Syndrome	Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618733
Genitourinary And/Or Brain Malformation Syndrome	Acrania, Dysplastic corpus callosum, Colpocephaly, Holoprosencephaly, Agenesis of corpus callosum	OMIM:618820
Multiple Endocrine Neoplasia Type 1	Anorexia, Depression, Increased circulating cortisol level, Primary hypercortisolism, Lethargy	ORPHA:652
Mirage Syndrome	Hydrocephalus	OMIM:617053
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Agenesis of corpus callosum, Colpocephaly	OMIM:309801
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Patent ductus arteriosus, Polymicrogyria, Death in childhood	OMIM:214100
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Hepatic periportal necrosis	ORPHA:26791
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Holoprosencephaly 13, X-Linked	Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly	OMIM:301043
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Osteopathia Striata With Cranial Sclerosis	Frontal bossing, Hydrocephalus, Partial agenesis of the corpus callosum, Spina bifida occulta, Th...	OMIM:300373
Dextrocardia	Hydrocephalus	ORPHA:1666
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Frontal bossing, Turricephaly, Craniosynostosis, Elevated circulating luteinizing hormone level, ...	ORPHA:95699
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Baller-Gerold Syndrome	Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Hydrocephalus, Oxycephaly, Spina bifid...	OMIM:218600
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia, Decreased thalamic volume	ORPHA:168577
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Frontal bossing, Ventriculomegaly	OMIM:617011
Coccidioidomycosis	Broad skull, Hydrocephalus, CSF pleocytosis, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Inc...	ORPHA:228123
Mend Syndrome	Hydrocephalus, Midface retrusion, Dandy-Walker malformation	ORPHA:401973
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Stromme Syndrome	Hydrocephalus, Agenesis of corpus callosum	OMIM:243605
Meningioma	Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p...	ORPHA:2495
Mend Syndrome	Hydrocephalus, Midface retrusion, Dandy-Walker malformation	OMIM:300960
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria	OMIM:247200
Lenz-Majewski Hyperostotic Dwarfism	Thickened calvaria, Hydrocephalus, Cranial hyperostosis, Facial hyperostosis, Agenesis of corpus ...	ORPHA:2658
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Failure to thrive, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Lethargy	OMIM:617156
Histiocytoid Cardiomyopathy	Lethargy	ORPHA:137675
Mucopolysaccharidosis, Type Vii	Hydrocephalus	OMIM:253220
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Hydrocephalus, Ventriculomegaly, Dolichocephaly	ORPHA:581
Mohr Syndrome	Hydrocephalus	OMIM:252100
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Severe hydrocephalu...	OMIM:236680
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus, Dolichocephaly	OMIM:253200
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly, Hydrocephalus, Midface retrusion	ORPHA:3042
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Anencephaly, Holoprosencephaly	OMIM:269860
Marburg Hemorrhagic Fever	Lethargy, Anorexia, Aggressive behavior	ORPHA:99826
Glycine Encephalopathy	Lethargy	ORPHA:407
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Craniosynostosis, Cranial hyperostosis, Brachycephaly, Thickened cal...	ORPHA:309282
Dubowitz Syndrome	Hydrocephalus, Spina bifida occulta, Craniosynostosis	ORPHA:235
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Pagod Syndrome	Encephalocele, Death in infancy, Spina bifida, Meningocele, Abnormality of neuronal migration	ORPHA:991
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:2166
Pseudoaminopterin Syndrome	Frontal bossing, Hydrocephalus, Sagittal craniosynostosis, Dolichocephaly	ORPHA:221120
Hajdu-Cheney Syndrome	Prominent occiput, Hydrocephalus, Platybasia, Dolichocephaly	ORPHA:955
H Syndrome	Hydrocephalus	ORPHA:168569
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Midface retrusion	OMIM:154400
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Broad skull, Hydrocephalus	ORPHA:163979
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Lethargy	ORPHA:226307
Exercise-Induced Malignant Hyperthermia	Lethargy, Ataxia	ORPHA:466650
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Right unicoronal synostosis, Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Right unicoronal synostosis, Frontal bossing, Lateral ventricle dilatation, Agenesis of corpus ca...	ORPHA:261552
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Craniosynostosis, Spina bifida, Hydrocepha...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Craniosynostosis, Spina bifida, Hydrocepha...	ORPHA:363958
Koolen-De Vries Syndrome	Gray matter heterotopia, Patent ductus arteriosus	OMIM:610443
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Distal 22Q11.2 Microduplication Syndrome	Frontal bossing, Hydrocephalus, Biparietal narrowing	ORPHA:261337
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Anencephaly, Dandy-Walker malfo...	OMIM:249000
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Kikuchi-Fujimoto Disease	Thrombocytopenia, Splenomegaly, Weight loss, Enlargement of parotid gland, Leukopenia, Lymphocyto...	ORPHA:50918
Diamond-Blackfan Anemia	Lethargy	ORPHA:124
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:242840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Midface retrusion, Ventriculomegaly	OMIM:253280
Fanconi Anemia	Frontal bossing, Spina bifida, Hydrocephalus, Dolichocephaly, Ventriculomegaly	ORPHA:84
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Bilateral Perisylvian Polymicrogyria	Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per...	ORPHA:98889
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy	OMIM:218700
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus	ORPHA:505248
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Meckel Syndrome	Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation	ORPHA:564
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hydrocephalus, Brachycephaly, Ventriculomegaly	ORPHA:2072
Fontaine Progeroid Syndrome	Turricephaly, Craniosynostosis, Hydrocephalus, Brachycephaly, Coronal craniosynostosis, Midface r...	OMIM:612289
Campomelic Dysplasia	Frontal bossing, Spina bifida, Hydrocephalus, Spinal dysraphism, Midface retrusion	OMIM:114290
22Q11.2 Deletion Syndrome	Turricephaly, Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Multiple sutu...	ORPHA:567
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Agenesis of corpus callosum	OMIM:227646
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Patent ductus arteriosus, Abnormality of neuronal migration	ORPHA:464311
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hydrocephalus, Plagiocephaly, Dolichocephaly, Decreased CSF 5-methyltetrahydrofolate concentratio...	OMIM:619475
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Frontal bossing, Anterior pituitary hypoplasia, Plagiocephaly, Poste...	OMIM:619841
Trisomy 8P	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:264450
Kabuki Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2322
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Pineoblastoma	Lethargy	ORPHA:251909
Osteogenesis Imperfecta	Hydrocephalus, Brachycephaly, Noncommunicating hydrocephalus, Prominent occiput, Ventriculomegaly	ORPHA:666
Fructose Intolerance, Hereditary	Lethargy	OMIM:229600
Smith-Lemli-Opitz Syndrome	Death in infancy, Periventricular heterotopia, Patent ductus arteriosus, Partial agenesis of the ...	OMIM:270400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia	ORPHA:453499
Microphthalmia With Limb Anomalies	Frontal bossing, Hydrocephalus	ORPHA:1106
Cryptococcosis	Hydrocephalus	ORPHA:1546
Limb Body Wall Complex	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	ORPHA:2369
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:352665
Marden-Walker Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:2461
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus, Craniosynostosis	ORPHA:667
Schimmelpenning-Feuerstein-Mims Syndrome	Cranial asymmetry	OMIM:163200
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Periventricular heterotopia, Patent ductus arteriosus, Partial agenesis ...	OMIM:615948
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Cockayne Syndrome A	Normal pressure hydrocephalus, Thickened calvaria, Ventriculomegaly	OMIM:216400
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus, Agenesis of corpus callosum, Midface retrusion	ORPHA:2556
Paroxysmal Nocturnal Hemoglobinuria	Lethargy, Dysphagia	ORPHA:447
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Holoprosencephaly, Abnormality of neuronal migration	ORPHA:3186
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Yunis-Varon Syndrome	Abnormal parietal bone morphology, Abnormal occipital bone morphology, Hydrocephalus, Dolichoceph...	ORPHA:3472
Fraser Syndrome 1	Encephalocele, Hydrocephalus, Myelomeningocele, Calvarial skull defect	OMIM:219000
Peters Plus Syndrome	Frontal bossing, Hydrocephalus, Brachycephaly, Anterior hypopituitarism, Spina bifida occulta, Ve...	ORPHA:709
Hajdu-Cheney Syndrome	Hydrocephalus	OMIM:102500
Loeys-Dietz Syndrome 1	Hydrocephalus, Craniosynostosis	OMIM:609192
Wiedemann-Rautenstrauch Syndrome	Frontal bossing, Hydrocephalus, Brachycephaly, Parietal bossing, Agenesis of corpus callosum, Dan...	OMIM:264090
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Hydrocephalus, Myelomeningocele	OMIM:306955
Wolf-Hirschhorn Syndrome	Craniofacial asymmetry, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly	OMIM:194190
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Gaucher Disease	Hydrocephalus, Ventriculomegaly	ORPHA:355
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:457359
Nijmegen Breakage Syndrome	Abnormality of neuronal migration	ORPHA:647
Cockayne Syndrome B	Normal pressure hydrocephalus, Thickened calvaria	OMIM:133540
Arima Syndrome	Gray matter heterotopia, Occipital meningocele	OMIM:243910
Eisenmenger Syndrome	Lethargy	ORPHA:97214
Liver Disease, Severe Congenital	Hypospadias, Biliary hyperplasia, Thrombocytopenia, Splenomegaly, Hydrocele testis, Leukopenia, L...	OMIM:619991
Costello Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:218040
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Wiedemann-Rautenstrauch Syndrome	Frontal bossing, Decreased response to growth hormone stimulation test, Hydrocephalus, Cranial as...	ORPHA:3455
Split Cord Malformation	Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele	ORPHA:573278
Coffin-Siris Syndrome 12	Noncommunicating hydrocephalus, Frontal bossing, Midface retrusion, Dolichocephaly	OMIM:619325
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus	OMIM:619321
Oeis Complex	Hydrocephalus, Myelomeningocele	OMIM:258040
Otopalatodigital Syndrome, Type Ii	Frontal bossing, Hydrocephalus, Midface retrusion, Spina bifida	OMIM:304120
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology	ORPHA:353277
Peters-Plus Syndrome	Frontal bossing, Craniosynostosis, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:261540
Tuberous Sclerosis Complex	Pituitary adenoma, Noncommunicating hydrocephalus, Subependymal nodules	ORPHA:805
Fetal Akinesia Deformation Sequence 1	Hydrocephalus	OMIM:208150
Focal Dermal Hypoplasia	Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum, Myelomeningocele	OMIM:305600
Loeys-Dietz Syndrome 2	Hydrocephalus, Craniosynostosis	OMIM:610168
Neurofibromatosis Type 1	Hydrocephalus	ORPHA:636
Tetrasomy 9P	Hydrocephalus, Dandy-Walker malformation	ORPHA:3310
Genitopatellar Syndrome	Colpocephaly, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:606170
Mucopolysaccharidosis Type 2	Communicating hydrocephalus	ORPHA:580
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus	ORPHA:363700
Simpson-Golabi-Behmel Syndrome, Type 1	Trigonocephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:312870
Roberts-Sc Phocomelia Syndrome	Hydrocephalus, Frontal encephalocele, Brachycephaly, Craniosynostosis	OMIM:268300
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Townes-Brocks Syndrome 1	Hydrocephalus, Holoprosencephaly	OMIM:107480
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780
Proteus Syndrome	Gray matter heterotopia	ORPHA:744
Mowat-Wilson Syndrome	Patent ductus arteriosus, Polymicrogyria, Agenesis of corpus callosum, Periventricular heterotopia	ORPHA:2152
Craniofacial Microsomia 1	Occipital encephalocele, 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.

There is no histopathology data for Mboat7

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 Mboat7.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Positive selection of somatically mutated clones identifies adaptive pathways in metabolic liver disease.	Cell (April 2023)	Mboat7^{tm1c(KOMP)Wtsi} Mboat7^{tm1a(KOMP)Wtsi}	37040760
MBOAT7-driven lysophosphatidylinositol acylation in adipocytes contributes to systemic glucose homeostasis.	Journal of lipid research (February 2023)	Mboat7^{tm1c(KOMP)Wtsi} Mboat7^{tm1a(KOMP)Wtsi}	PMC10041558
Hepatic deletion of Mboat7 (LPIAT1) causes activation of SREBP-1c and fatty liver.	Journal of lipid research (February 2021)	Mboat7^{tm1c(KOMP)Wtsi}	PMC8022244
Loss of hepatic Mboat7 leads to liver fibrosis.	Gut (June 2020)	Mboat7^{tm1c(KOMP)Wtsi}	PMC8040158
Lysophosphatidylinositol-acyltransferase-1 (LPIAT1) is required to maintain physiological levels of PtdIns and PtdInsP(2) in the mouse.	PloS one (March 2013)	Mboat7^{tm1a(KOMP)Wtsi}	PMC3589398

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
Mboat7^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Mboat7^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Mboat7^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Mboat7^{tm1c(KOMP)Wtsi}	Wild type floxed exon (post-Flp)	Mice

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: Mboat7 MGI:1924832

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

X-ray

Adult LacZ

MicroCT E18.5

X-ray

X-ray

Immunophenotyping

Immunophenotyping

Auditory Brain Stem Response

Human diseases caused by Mboat7 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data