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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
small seminal vesicle	Mboat7^{tm1b(KOMP)Wtsi}	HET	Early adult	0.00
increased lymphocyte cell number	Mboat7^{tm1b(KOMP)Wtsi}	HET	Early adult	9.53×10^-06
decreased lean body mass	Mboat7^{tm1b(KOMP)Wtsi}	HET	Early adult	1.40×10^-05
preweaning lethality, incomplete penetrance	Mboat7^{tm1b(KOMP)Wtsi}	HOM	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	0.67% (4 of 598)
aorta	0.17% (1 of 598)
bone	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
esophagus	1.66% (7 of 422)
eye	0.0%
gall bladder	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
olfactory lobe	0.33% (2 of 598)
oral epithelium	0.0%
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
parathyroid gland	0.17% (1 of 576)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
uterus	0.33% (2 of 598)
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.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Echo

M-Mode Images

32 Images

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Adult LacZ

LacZ Images Wholemount

19 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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MicroCT E18.5

Embryo reconstruction

3 Images

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Auditory Brain Stem Response

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

4 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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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 (872 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
Hydrocephalus, Autosomal Dominant	Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dolichocephaly, Frontal bossing, Dandy-Walker malformation, Orbital craniosynostosis	ORPHA:1538
Band Heterotopia	Plagiocephaly, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Agenesis of corpus ...	OMIM:600348
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Holoprosencephaly 5	Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ...	OMIM:609637
Craniosynostosis 6	Brachycephaly, Parietal foramina, Plagiocephaly, Turricephaly, Lateral ventricle dilatation, Righ...	OMIM:616602
Kleeblattschaedel	Cloverleaf skull, Hydrocephalus, Craniosynostosis	OMIM:148800
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly, Lateral ventricle dilatation	OMIM:619972
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Brachycephaly, Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida occulta, F...	OMIM:618736
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ...	OMIM:300067
Developmental And Epileptic Encephalopathy 92	Inability to walk, Ataxia, Difficulty walking, Lethargy, Dystonia	OMIM:617829
Chudley-Mccullough Syndrome	Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly, Dysplastic corpus callosum	OMIM:604213
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Brachycephaly, Dilated third ventricle, Plagiocephaly, Lateral ventricle dilatation, Frontal boss...	OMIM:617296
Sub-Cortical Nodular Heterotopia	Subcortical heterotopia, Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicr...	ORPHA:101029
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Choreoathetosis, Ataxia, Paroxysmal lethargy, Confusion, Lethargy	OMIM:606777
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria	OMIM:615411
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Lateral ventricle dilatation, Frontal bossing	OMIM:618330
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Lissencephaly 3	Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Periventricular laminar heterotopia, ...	OMIM:611603
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Hydrocephalus, Midface retrusion, Craniosynostosis	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	Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria	OMIM:607432
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Gait disturbance	ORPHA:79283
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy, Dystonia, Ataxia	OMIM:618224
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly, Dilated third ventricle, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:619244
Gómez-López-Hernández Syndrome	Brachycephaly, Hydrocephalus, Midface retrusion, Turricephaly	ORPHA:1532
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal...	OMIM:613154
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Glycine Encephalopathy	Impulsivity, Hyperactivity, Lethargy, Restlessness	OMIM:605899
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Macrocephaly, Benign Familial	Biparietal narrowing, Dolichocephaly, Ventriculomegaly, Frontal bossing	OMIM:153470
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Autosomal Recessive Dopa-Responsive Dystonia	Gait ataxia, Generalized dystonia, Postural tremor, Limb dystonia, Oculogyric crisis, Ataxia, Foc...	ORPHA:101150
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy, Difficulty walking	OMIM:613710
X-Linked Intellectual Disability, Wilson Type	Brachycephaly, Lateral ventricle dilatation	ORPHA:85290
Methylmalonic Acidemia With Homocystinuria	Lethargy, Gait disturbance	ORPHA:26
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Ataxia	ORPHA:622
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation	OMIM:613443
Lissencephaly 4	Agenesis of corpus callosum, Colpocephaly	OMIM:614019
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Ataxia, Lethargy, Bradykinesia	OMIM:618683
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Agyria, Pachygyria	ORPHA:1084
Acalvaria	Calvarial skull defect, Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
16P13.2 Microdeletion Syndrome	Brachycephaly, Dilated third ventricle, Plagiocephaly, Ventriculomegaly, Hydrocephalus	ORPHA:500055
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Congenital Hydrocephalus	Frontal bossing, Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Developmental And Epileptic Encephalopathy 49	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Frontal bossing	OMIM:617281
Malan Overgrowth Syndrome	Scaphocephaly, Plagiocephaly, Ventriculomegaly, Lateral ventricle dilatation, Frontal bossing	ORPHA:420179
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Developmental And Epileptic Encephalopathy 40	Choreoathetosis, Lethargy	OMIM:617065
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
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
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Ventriculomegaly, Hydrocephalus, Midface retrusion, Unilambdoid syn...	OMIM:618577
Classic Glucose Transporter Type 1 Deficiency Syndrome	Choreoathetosis, Ataxia, Confusion, Lethargy, Dystonia	ORPHA:71277
Craniofacial Dyssynostosis With Short Stature	Brachycephaly, Ventriculomegaly, Brachyturricephaly, Agenesis of corpus callosum, Hydrocephalus, ...	OMIM:218350
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular heterotopia, Periventricular nodular heterotopia	OMIM:608097
Severe Canavan Disease	Lethargy, Inability to walk, Oral-pharyngeal dysphagia	ORPHA:314911
Epilepsy, Pyridoxine-Dependent	Hydrocephalus	OMIM:266100
Masa Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:303350
Craniotelencephalic Dysplasia	Frontal encephalocele, Arrhinencephaly, Hydrocephalus, Frontal bossing, Craniosynostosis, Agenesi...	ORPHA:1528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Drowsiness, Coma, Agitation, Tremor, Lethargy	ORPHA:276608
Hyperphenylalaninemia, Bh4-Deficient, B	Choreoathetosis, Tremor, Dysphagia, Lethargy, Dystonia	OMIM:233910
Fried Syndrome	Hydrocephalus, Thickened calvaria	ORPHA:85335
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Early Myoclonic Encephalopathy	Lethargy, Dysphagia	ORPHA:1935
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle	OMIM:619725
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation, Frontal bossing	OMIM:600721
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ventricle dilatation, Mid...	OMIM:618291
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
1Q21.1 Microduplication Syndrome	Hydrocephalus, Frontal bossing	ORPHA:250994
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Meningocele, Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Frontal bos...	ORPHA:397715
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Lethargy	OMIM:274270
Polymicrogyria Due To Tubb2B Mutation	Agenesis of corpus callosum, Lateral ventricle dilatation	ORPHA:300573
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:614120
Dopa-Responsive Dystonia	Generalized dystonia, Inability to walk, Oculogyric crisis, Gait disturbance, Leg dystonia, Tremo...	ORPHA:255
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Abnormal...	ORPHA:79243
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Confusion, Lethargy	OMIM:617900
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Truncal ataxia, Ataxia, Dysmetria, Head titubation, Lethargy, Dystonia	OMIM:250620
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Craniosynostosis, Lateral ventricle dilatation	ORPHA:284417
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Plagiocephaly, Lateral ventricle dilatation	OMIM:617751
Hyperinsulinism Due To Ucp2 Deficiency	Drowsiness, Agitation, Hypoglycemic coma, Polyphagia, Loss of consciousness, Lethargy	ORPHA:276556
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy, Dystonia, Ataxia	OMIM:246900
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha...	OMIM:604317
Congenital Muscular Dystrophy, Fukuyama Type	Brachycephaly, Plagiocephaly, Ventriculomegaly, Hydrocephalus, Dolichocephaly	ORPHA:272
Pontocerebellar Hypoplasia, Type 1A	Lateral ventricle dilatation	OMIM:607596
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Gait ataxia, Opisthotonus, Inability to walk, Coma, Truncal titubation, Action tremor, Craniofaci...	OMIM:607483
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Immunodeficiency 83, Susceptibility To Viral Infections	Confusion, Lethargy	OMIM:613002
Greig Cephalopolysyndactyly Syndrome	Scaphocephaly, Ventriculomegaly, Hydrocephalus, Dolichocephaly, Frontal bossing, Abnormal calvari...	OMIM:175700
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Glutamine Deficiency, Congenital	Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation	OMIM:610015
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Drowsiness, Agitation, Hypoglycemic coma, Polyphagia, Loss of consciousness, Lethargy	ORPHA:276575
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dilated third ventricle, Dysplastic corpus callosum, Lateral ventricle dilatation	ORPHA:544488
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Drowsiness, Agitation, Hypoglycemic coma, Polyphagia, Loss of consciousness, Lethargy	ORPHA:276580
Short Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Dystonia	ORPHA:26792
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Delirium, Drowsiness, Coma, Ataxia, Agitation, Loss of consciousness, Confusion, Lethargy	ORPHA:927
Hyperinsulinism Due To Hnf1A Deficiency	Drowsiness, Agitation, Hypoglycemic coma, Polyphagia, Loss of consciousness, Lethargy	ORPHA:324575
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lethargy, Dystonia, Ataxia, Dysphagia	OMIM:618226
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachycephaly, Lateral ventricle dilatation	OMIM:619995
Pyruvate Dehydrogenase E1-Alpha Deficiency	Choreoathetosis, Episodic ataxia, Tremor, Lethargy, Dystonia	OMIM:312170
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation	OMIM:615716
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly	ORPHA:250972
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation	OMIM:221770
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dolichocephaly, Frontal bossing, Dandy-Walker malformation	OMIM:220220
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Dilated third ventricle, Hydrocephalus, Lateral ventricle dilatation	OMIM:619575
Citrullinemia Type Ii	Hypertriglyceridemia, Hyperactivity, Delirium, Fluctuations in consciousness, Drowsiness, Coma, T...	ORPHA:247585
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation	OMIM:608629
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation, Frontal bossing	OMIM:614105
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Hereditary Central Diabetes Insipidus	Lethargy, Polydipsia	ORPHA:30925
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum	OMIM:619302
Subependymal Nodular Heterotopia	Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Partia...	ORPHA:101030
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Craniosynostosis, Hydrocephalus, Dolichocephaly, Frontal bossing	ORPHA:1516
Corpus Callosum, Partial Agenesis Of, X-Linked	Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:304100
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele	OMIM:182940
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt...	OMIM:614470
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Craniosynostosis, Agenesis of corpus callosum, Frontal bossing	ORPHA:380
Leukoencephalopathy With Vanishing White Matter 1	Unsteady gait, Lethargy, Gait disturbance	OMIM:603896
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Chromosome 6Q24-Q25 Deletion Syndrome	Lateral ventricle dilatation, Hydrocephalus, Dolichocephaly, Frontal bossing, Agenesis of corpus ...	OMIM:612863
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly, Ventriculomegaly	ORPHA:521390
Classic Galactosemia	Gait imbalance, Postural tremor, Gait disturbance, Ataxia, Attention deficit hyperactivity disord...	ORPHA:79239
Cyclic Vomiting Syndrome	Lethargy, Attention deficit hyperactivity disorder, Ataxia	OMIM:500007
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spastic gait, Dysdiadochokinesis, Coma, Truncal ataxia, Dysmetria, Confusion, Lethargy	OMIM:238970
N-Acetylglutamate Synthase Deficiency	Coma, Confusion, Lethargy	OMIM:237310
Cach Syndrome	T2 hypointense thalamus, Lateral ventricle dilatation	ORPHA:135
Basel-Vanagaite-Smirin-Yosef Syndrome	Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	ORPHA:464738
Chromosome 3Q13.31 Deletion Syndrome	Brachycephaly, Plagiocephaly, Ventriculomegaly, Dolichocephaly, Alobar holoprosencephaly, Agenesi...	OMIM:615433
Pettigrew Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Citrullinemia Type I	Coma, Torticollis, Ataxia, Loss of consciousness, Lethargy	ORPHA:247525
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Dysgyria, Occipital encephalocele	ORPHA:352682
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Dandy-Walker malformation, Lateral ventricle dilatation	ORPHA:3078
Pyruvate Dehydrogenase Deficiency	Choreoathetosis, Gait disturbance, Ataxia, Tremor, Lethargy, Dystonia	ORPHA:765
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Coma, Lethargy, Dystonia, Choreoathetosis	ORPHA:289916
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Lethargy	OMIM:610498
Glycerol Kinase Deficiency	Coma, Hypertriglyceridemia, Lethargy, Loss of consciousness	OMIM:307030
Galactosemia	Gait imbalance, Postural tremor, Gait disturbance, Ataxia, Action tremor, Lethargy, Dystonia	ORPHA:352
Pontocerebellar Hypoplasia, Type 13	Dandy-Walker malformation, Lateral ventricle dilatation	OMIM:618606
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Hyperlysinuria With Hyperammonemia	Coma, Lethargy	OMIM:238750
Lethal Infantile Mitochondrial Myopathy	Lethargy	ORPHA:254857
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation	OMIM:617854
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy	OMIM:618228
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lethargy, Dysphagia	OMIM:613561
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Dilated third ventricle, Abnormal cerebrospinal fluid morphology	ORPHA:314404
Hemimegalencephaly	Abnormal neuron morphology, Gray matter heterotopia, Pachygyria, Polymicrogyria	ORPHA:99802
Central Diabetes Insipidus	Excessive daytime somnolence, Lethargy, Polydipsia	ORPHA:178029
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy, Ataxia	OMIM:618225
Melanosis, Neurocutaneous	Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation	OMIM:249400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Coma, Lethargy, Dystonia, Choreoathetosis	ORPHA:79312
Central Precocious Puberty	Increased circulating gonadotropin level, Hypothalamic hamartoma, Hydrocephalus	ORPHA:759
Aicardi Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Spina bifida, Choroid plexus cyst, Partial...	OMIM:304050
Crouzon Syndrome	Brachycephaly, Turricephaly, Hydrocephalus, Midface retrusion, Frontal bossing, Multiple suture c...	ORPHA:207
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Plagiocephaly, Lateral ventricle dilatation, Midface retrusion, Dolichocephaly, Frontal bossing	ORPHA:457279
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Midface retrusion, Plagiocephaly, Colpocephaly	OMIM:618731
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Insulinoma	Fluctuations in consciousness, Coma, Tremor, Polyphagia, Reduced consciousness/confusion, Lethargy	ORPHA:97279
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:2182
Slc35A2-Cdg	Craniosynostosis, Elevated circulating thyroid-stimulating hormone concentration, Dandy-Walker ma...	ORPHA:356961
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Frontal bossing, Communicating hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:615219
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Partial...	OMIM:616212
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormality of thalamus morphology, Normal pressure hydrocephalus, Lateral ventricle dilatation, ...	ORPHA:300570
Autosomal Recessive Primary Microcephaly	Agenesis of corpus callosum, Gray matter heterotopia, Pachygyria	ORPHA:2512
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Typhoid	Coma, Tremor, Lethargy, Ataxia	ORPHA:99745
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Cole-Carpenter Syndrome 1	Coronal craniosynostosis, Hydrocephalus, Midface retrusion, Communicating hydrocephalus, Frontal ...	OMIM:112240
Hydrocephalus, Congenital, X-Linked	Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	OMIM:307000
Vitamin B12-Unresponsive Methylmalonic Acidemia	Coma, Lethargy, Choreoathetosis, Ataxia	ORPHA:27
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachycephaly, Hydrocephalus, Turricephaly, Frontal bossing	ORPHA:93262
Developmental And Epileptic Encephalopathy 65	Plagiocephaly, Ventriculomegaly	OMIM:618008
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Simplified gyral pattern, Partial agenesis of the corpus callosum, Periventricular heterotopia	OMIM:616171
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Carnitine Palmitoyl Transferase 1A Deficiency	Coma, Transient hyperlipidemia, Lethargy, Loss of consciousness	ORPHA:156
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Muenke Syndrome	Brachycephaly, Hydrocephalus, Plagiocephaly, Coronal craniosynostosis	ORPHA:53271
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy, Gait disturbance	OMIM:236270
Aicardi-Goutieres Syndrome 4	CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly	OMIM:610333
Vitamin B12-Responsive Methylmalonic Acidemia	Coma, Lethargy	ORPHA:28
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Frontal bossing	ORPHA:163961
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Brachycephaly, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:109120
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lateral ventricle dilatation	OMIM:617397
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, Gait imbalance	OMIM:618120
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus, Frontal bossing	ORPHA:2181
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Susac Syndrome	Gait ataxia, Confusion, Lethargy	ORPHA:838
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Coma, Gait disturbance, Ataxia, Loss of ambulation, Lethargy	OMIM:615838
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly, Agenesis of corpus callosum	ORPHA:459074
Thanatophoric Dysplasia Type 2	Encephalocele, Ventriculomegaly, Hydrocephalus, Frontal bossing, Cloverleaf skull, Holoprosencephaly	ORPHA:93274
Lissencephaly 5	Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Subcortical band heterotopia, Occi...	OMIM:615191
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation	OMIM:618914
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:488627
Multiple Carboxylase Deficiency	Coma, Lethargy, Ataxia	ORPHA:148
Thanatophoric Dysplasia	Ventriculomegaly, Hydrocephalus, Midface retrusion, Frontal bossing, Cloverleaf skull	ORPHA:2655
Distal Monosomy 10Q	Brachycephaly, Lateral ventricle dilatation, Frontal bossing, Spina bifida occulta, Craniosynostosis	ORPHA:96148
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport...	ORPHA:169154
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Aromatic L-Amino Acid Decarboxylase Deficiency	Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy...	OMIM:608643
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Abnormality of neuronal migration, Agenesis of corpus callosum, Microlis...	ORPHA:89844
Riboflavin Deficiency	Lethargy	OMIM:615026
Kohlschutter-Tonz Syndrome-Like	Brachycephaly, Midface retrusion, Ventriculomegaly, Lateral ventricle dilatation	OMIM:619229
Developmental And Epileptic Encephalopathy 41	Lethargy, Inability to walk	OMIM:617105
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Dilated third ventricle, Partial agenesis of the corpus callosum, Trigo...	ORPHA:434179
Congenital Disorder Of Glycosylation, Type Iig	Midface retrusion, Lateral ventricle dilatation	OMIM:611209
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Brachycephaly, Hydrocephalus, Craniosynostosis, Turricephaly	ORPHA:171839
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
Pontocerebellar Hypoplasia, Type 6	Lethargy	OMIM:611523
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Crouzon Syndrome	Brachycephaly, Sagittal craniosynostosis, Coronal craniosynostosis, Hydrocephalus, Midface retrus...	OMIM:123500
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Fusion of the left and right thalami, Agenesis of corpus callosum	OMIM:617542
Temple Syndrome	Hydrocephalus, Decreased response to growth hormone stimulation test, Frontal bossing	ORPHA:254516
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Coma, Lethargy, Ataxia, Loss of consciousness	ORPHA:42
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Glutaric Acidemia Type 3	Impulsivity, Lethargy	ORPHA:35706
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation	OMIM:619847
Alexander Disease Type I	Abnormal thalamic MRI signal intensity, Hydrocephalus	ORPHA:363717
Combined Oxidative Phosphorylation Defect Type 39	Increased CSF lactate, Lateral ventricle dilatation	ORPHA:565624
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Hyperinsulinism Due To Hnf4A Deficiency	Drowsiness, Coma, Agitation, Tremor, Lethargy	ORPHA:263455
Intellectual Developmental Disorder, Autosomal Dominant 36	Hydrocephalus, Plagiocephaly, Ventriculomegaly, Agenesis of corpus callosum	OMIM:616362
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Hemochromatosis, Type 2A	Lethargy	OMIM:602390
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy	OMIM:618232
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Coma, Lethargy, Ataxia	OMIM:237300
Pyruvate Dehydrogenase E3 Deficiency	Lethargy, Ataxia	ORPHA:2394
Carnitine Deficiency, Systemic Primary	Coma, Excessive daytime somnolence, Lethargy, Confusion	OMIM:212140
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Orbital encephalocele	OMIM:164180
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Combined Oxidative Phosphorylation Deficiency 52	Lethargy	OMIM:619386
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:572798
Williams-Beuren Region Duplication Syndrome	Brachycephaly, Hydrocephalus, Decreased response to growth hormone stimulation test, Ventriculome...	OMIM:609757
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Occipital encephalocele, Craniosynostosis	OMIM:614416
Hemochromatosis Type 2	Lethargy	ORPHA:79230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Death in infancy, Agyria, Hydroc...	OMIM:614643
Cole-Carpenter Syndrome 2	Turricephaly, Coronal craniosynostosis, Hydrocephalus, Midface retrusion, Frontal bossing, Lambdo...	OMIM:616294
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Ritscher-Schinzel Syndrome 1	Brachycephaly, Decreased response to growth hormone stimulation test, Hydrocephalus, Prominent oc...	OMIM:220210
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Brachycephaly, Sagittal craniosynostosis, Scaphocephaly, Agenesis of corpus callosum, Hydrocephal...	ORPHA:459061
Maple Syrup Urine Disease	Coma, Lethargy, Ataxia	OMIM:248600
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Bainbridge-Ropers Syndrome	Scaphocephaly, Lateral ventricle dilatation, Trigonocephaly	OMIM:615485
Carnitine Palmitoyltransferase I Deficiency	Coma, Transient hyperlipidemia, Lethargy	OMIM:255120
Holocarboxylase Synthetase Deficiency	Coma, Lethargy, Ataxia	ORPHA:79242
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Ventriculomegaly, Lateral ventricle dilatation, Frontal bossing	OMIM:619479
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
Thyroid Dyshormonogenesis 1	Lethargy	OMIM:274400
Ogden Syndrome	Torticollis, Excessive daytime somnolence, Lethargy, Shuffling gait	ORPHA:276432
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Hyperlipidemia	ORPHA:2089
Isovaleric Acidemia	Coma, Lethargy	OMIM:243500
Mosaic Trisomy 1	Agenesis of corpus callosum, Lateral ventricle dilatation, Frontal bossing	ORPHA:1692
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria	ORPHA:370980
Coach Syndrome 2	Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Linear Skin Defects With Multiple Congenital Anomalies 3	Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:300952
Chiari Malformation Type Ii	Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Agen...	OMIM:207950
Gorlin Syndrome	Brachycephaly, Hydrocephalus, Frontal bossing	ORPHA:377
L1 Syndrome	Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy	ORPHA:49827
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation	ORPHA:2148
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Lateral ventricle dilatation	ORPHA:293725
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Cog5-Cdg	Lateral ventricle dilatation	ORPHA:263487
1Q44 Microdeletion Syndrome	Ventriculomegaly, Hydrocephalus, Biparietal narrowing, Frontal bossing, Agenesis of corpus callosum	ORPHA:238769
Idiopathic Congenital Hypothyroidism	Lethargy	ORPHA:95717
Edinburgh Malformation Syndrome	Hydrocephalus, Frontal bossing	ORPHA:1895
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Lethargy	OMIM:619064
Propionic Acidemia	Coma, Lethargy, Dystonia	OMIM:606054
Weaver Syndrome	Flat occiput, Ventriculomegaly, Lateral ventricle dilatation	OMIM:277590
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Hydranencephaly, Agenesis of corpus c...	OMIM:225790
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Idiopathic Intracranial Hypertension	Lethargy	ORPHA:238624
Holoprosencephaly 14	Ventriculomegaly, Aqueductal stenosis, Proboscis, Hydrocephalus, Alobar holoprosencephaly, Fronta...	OMIM:619895
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lethargy, Ataxia	OMIM:614299
Multiple Mitochondrial Dysfunctions Syndrome 1	Neonatal death, Lethargy, Opisthotonus	OMIM:605711
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:619955
Scrub Typhus	Reduced consciousness/confusion, Tremor, Lethargy	ORPHA:83317
Pallister-Hall-Like Syndrome	Anterior hypopituitarism, Hypothalamic hamartoma, Occipital encephalocele, Hydrocephalus	OMIM:241800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly, Frontal bossing	OMIM:603387
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland, Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele	OMIM:614195
Walker-Warburg Syndrome	Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc...	ORPHA:899
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Leber Congenital Amaurosis	Encephalocele, Abnormality of neuronal migration	ORPHA:65
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Acute Monoblastic/Monocytic Leukemia	Anemia, Weight loss, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia	ORPHA:514
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Hydrocephalus, Dolichocephaly, Choroid plexus cyst, Decreased calvarial ossific...	OMIM:617866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Pachygyria	OMIM:608840
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Dysplastic Cortical Hyperostosis	Abnormality of neuronal migration	ORPHA:2204
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Coma, Opisthotonus, Lethargy	OMIM:210200
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Frontal bossing	OMIM:300863
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Hydrocephalus, Plagiocephaly, Ventriculomegaly, Colpocephaly	OMIM:619833
Bresek Syndrome	Hydrocephalus, Plagiocephaly	ORPHA:85284
Gabriele-De Vries Syndrome	Dolichocephaly, Lateral ventricle dilatation	OMIM:617557
Methylcobalamin Deficiency Type Cble	Excessive daytime somnolence, Lethargy, Drowsiness, Loss of consciousness	ORPHA:2169
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Dystonia, Lethargy, Spastic ataxia	OMIM:277410
Medulloblastoma	Cerebellar ataxia associated with quadrupedal gait, Ataxia, Dysmetria, Progressive cerebellar ata...	ORPHA:616
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Lateral ventricle dilatation	ORPHA:2822
Aicardi-Goutieres Syndrome 9	Lateral ventricle dilatation	OMIM:619487
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Limb dystonia, Lethargy	OMIM:604377
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Hydrocephalus, P...	ORPHA:91348
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Dihydropyrimidinase Deficiency	Excessive daytime somnolence, Lethargy	OMIM:222748
Carnitine Palmitoyltransferase Ii Deficiency	Abnormality of neuronal migration, Renal tubular epithelial necrosis, Hydrocephalus, Pachygyria, ...	ORPHA:157
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus	OMIM:613776
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Brachycephaly, Coronal craniosynostosis, Hydrocephalus, Midface retrusion, Frontal bossing, Lambd...	OMIM:207410
Kufor-Rakeb Syndrome	Blepharospasm, Lingual dystonia, Oculogyric crisis, Gait disturbance, Difficulty walking, Dysphag...	ORPHA:306674
Hypercalcemia, Infantile, 1	Lethargy	OMIM:143880
Vacterl Association With Hydrocephalus	Hydrocephalus, Aqueductal stenosis	OMIM:276950
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Lymphoproliferative Syndrome, X-Linked, 1	Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Aplastic anemia, Neutropenia, Sp...	OMIM:308240
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly, Frontal bossing	ORPHA:60040
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Gait ataxia, Ataxia, Lethargy, Generalized dystonia, Dystonia	OMIM:618321
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Pfeiffer Syndrome	Coronal craniosynostosis, Cloverleaf skull, Hydrocephalus, Brachyturricephaly	OMIM:101600
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus, Decreased thalamic volume, Occipital e...	ORPHA:370959
Prader-Willi Syndrome Due To Translocation	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Flat occipu...	ORPHA:177907
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy	OMIM:600649
Meckel Syndrome, Type 4	Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation	OMIM:611134
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dolichocephaly, Dandy-Walker malformation	OMIM:310400
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Craniosynostosis, Frontal bossing	ORPHA:1064
Desmosterolosis	Patent ductus arteriosus, Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyr...	ORPHA:35107
Temple Syndrome	Hydrocephalus, Frontal bossing	OMIM:616222
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Tremor, Lethargy, Ataxia	OMIM:201100
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele	ORPHA:1914
Thanatophoric Dysplasia, Type I	Cloverleaf skull, Hydrocephalus, Midface retrusion, Frontal bossing	OMIM:187600
Apert Syndrome	Ventriculomegaly, Brachyturricephaly, Agenesis of corpus callosum, Hydrocephalus, Midface retrusi...	ORPHA:87
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Meningococcal Meningitis	Reduced consciousness/confusion, Lethargy, Drowsiness	ORPHA:33475
Staphylococcal Necrotizing Pneumonia	Confusion, Lethargy, Alcoholism	ORPHA:36238
Albers-Schönberg Osteopetrosis	Hydrocephalus, Frontal bossing	ORPHA:53
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Brachycephaly, Lateral ventricle dilatation	OMIM:263520
Arachnoiditis	Hydrocephalus	ORPHA:137817
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Coma, Lethargy	OMIM:201450
Intellectual Developmental Disorder, Autosomal Dominant 35	Hydrocephalus, Ventriculomegaly	OMIM:616355
Oculocerebrocutaneous Syndrome	Calvarial skull defect, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Peho Syndrome	Midface retrusion, Hydrocephalus, Biparietal narrowing, Ventriculomegaly	ORPHA:2836
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Thanatophoric Dysplasia Type 1	Cloverleaf skull, Hydrocephalus, Ventriculomegaly, Frontal bossing	ORPHA:1860
Cole-Carpenter Syndrome	Communicating hydrocephalus, Midface retrusion, Turricephaly, Frontal bossing	ORPHA:2050
Evans Syndrome	Lethargy	ORPHA:1959
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Lethargy	OMIM:614857
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly	OMIM:615630
Autosomal Dominant Progressive External Ophthalmoplegia	Gait ataxia, Resting tremor, Gait disturbance, Ataxia, Tremor, Dysphagia, Lethargy, Bradykinesia	ORPHA:254892
Infantile Liver Failure Syndrome 2	Lethargy	OMIM:616483
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Spinal dysraphism, Encephalocele, Anencephaly, Hydrocephalus, Holoprosencephaly	ORPHA:1908
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Frontal bossing	ORPHA:163966
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Turricephaly, Hydrocephalus, Midface retrusion, Dolichocephaly, Cloverleaf skull, Craniosynostosis	ORPHA:1555
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy	OMIM:611590
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Midface retrusion, Agenesis of corpus callosum, Frontal bossing	OMIM:612940
Peroxisome Biogenesis Disorder 12A (Zellweger)	Scaphocephaly, Hydrocephalus, Cranial asymmetry	OMIM:614886
Chromosome 6Pter-P24 Deletion Syndrome	Brachycephaly, Agenesis of corpus callosum, Hydrocephalus, Midface retrusion, Frontal bossing, Da...	OMIM:612582
Holoprosencephaly 7	Hydrocephalus, Midface retrusion, Panhypopituitarism, Lobar holoprosencephaly, Frontal bossing, S...	OMIM:610828
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Ventriculomegaly, Lateral ventricle dilata...	OMIM:615873
Familial Thyroid Dyshormonogenesis	Lethargy	ORPHA:95716
Immunodeficiency 92	B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc...	OMIM:619652
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Diabetic Embryopathy	Spinal dysraphism, Hydrocephalus, Frontal bossing	ORPHA:1926
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Craniosynostosis 2	Brachycephaly, Turricephaly, Frontal bossing, Unicoronal synostosis, Trigonocephaly, Bicoronal sy...	OMIM:604757
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:617201
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Coma, Lethargy	OMIM:251000
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Increased circulating prolactin concentration, Anterior hypopituitarism...	ORPHA:91350
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Splenomegaly	ORPHA:86843
Weiss-Kruszka Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly	OMIM:618619
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormality of neuronal migration, Renal tubular epithelial necrosis, Hydrocephalus, Pachygyria, ...	ORPHA:228308
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Skull asymmetry, Dandy-Walker malformation	OMIM:612938
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Turricephaly, Ventriculomegaly, Hydrocephalus, Frontal bossing	OMIM:613603
Mitochondrial Trifunctional Protein Deficiency	Coma, Lethargy, Tip-toe gait	ORPHA:746
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus, Turricephaly, Agenesis of corpus callosum	OMIM:619320
Encephalitis Lethargica	Coma, Tremor, Lethargy	ORPHA:83600
Pfeiffer Syndrome Type 1	Brachycephaly, Midface retrusion, Aqueductal stenosis, Bicoronal synostosis	ORPHA:93258
Arnold-Chiari Malformation Type Ii	Meningocele, Myelomeningocele, Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Partial agen...	ORPHA:1136
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Trisomy 1Q	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Frontal bossing	ORPHA:261344
Fructose-1,6-Bisphosphatase Deficiency	Coma, Lethargy	OMIM:229700
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Plagiocephaly, Ventriculomegaly, Dandy-Walker malformation	OMIM:617822
Methylmalonic Aciduria, Cbla Type	Coma, Tremor, Lethargy	OMIM:251100
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta, Thin calvarium	ORPHA:2437
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum, Periventricular heterotopia, Pachygyria	ORPHA:255138
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune throm...	ORPHA:911
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Death in infancy	ORPHA:1493
Osteopetrosis, Autosomal Recessive 2	Cranial hyperostosis, Hydrocephalus	OMIM:259710
Cerebrooculonasal Syndrome	Brachycephaly, Encephalocele, Ventriculomegaly, Proboscis, Hydrocephalus, Frontal bossing, Cranio...	OMIM:605627
Joubert Syndrome With Renal Defect	Hydrocephalus, Biparietal narrowing, Encephalocele, Agenesis of corpus callosum	ORPHA:220497
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Scalp-Ear-Nipple Syndrome	Calvarial skull defect, Lateral ventricle dilatation, Frontal bossing	OMIM:181270
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Prominent occiput, Lateral ventricle dilatation	OMIM:300868
3C Syndrome	Ventriculomegaly, Hydrocephalus, Prominent occiput, Frontal bossing, Dandy-Walker malformation	ORPHA:7
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Neurocutaneous Melanocytosis	Meningocele, Abnormality of neuronal migration, Death in infancy	ORPHA:2481
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Hydrolethalus	Anencephaly, Arrhinencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2189
Combined Oxidative Phosphorylation Deficiency 11	Lethargy	OMIM:614922
Carnitine-Acylcarnitine Translocase Deficiency	Coma, Lethargy	OMIM:212138
Craniopharyngioma	Enlarged pituitary gland, Increased circulating prolactin concentration, Neoplasm of the anterior...	ORPHA:54595
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Beare-Stevenson Cutis Gyrata Syndrome	Ventriculomegaly, Hydrocephalus, Midface retrusion, Cloverleaf skull, Flat occiput, Craniosynosto...	OMIM:123790
Rhombencephalosynapsis	Hydrocephalus, Fusion of the left and right thalami, Ventriculomegaly	ORPHA:59315
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Coma, Opisthotonus, Lethargy	OMIM:210210
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Frontal bossing	ORPHA:1812
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Confusion, Lethargy	ORPHA:71212
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Midface retrusion, Encephalocele	OMIM:224400
Linear Nevus Sebaceus Syndrome	Plagiocephaly, Ventriculomegaly, Biparietal narrowing, Prominent occiput, Frontal bossing, Dandy-...	ORPHA:2612
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lethargy, Gait disturbance, Ataxia	ORPHA:395
Spondyloenchondrodysplasia	Midface retrusion, Abnormal lateral ventricle morphology, Decreased response to growth hormone st...	ORPHA:1855
Apert Syndrome	Brachycephaly, Sagittal craniosynostosis, Ventriculomegaly, Brachyturricephaly, Coronal craniosyn...	OMIM:101200
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus, Craniosynostosis, Frontal bossing	OMIM:259700
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:77298
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Ventriculomegaly, Frontal bossing, Agenesi...	OMIM:617260
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Coma, Lethargy, Episodic ataxia, Ataxia	OMIM:311250
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Biparietal narrowing, Encephalocele	ORPHA:2318
16Q24.3 Microdeletion Syndrome	Frontal bossing, Biparietal narrowing, Ventriculomegaly, Colpocephaly	ORPHA:261250
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Lethargy	OMIM:201475
Proteus-Like Syndrome	Hydrocephalus, Dolichocephaly, Communicating hydrocephalus	ORPHA:2969
Li-Ghorbani-Weisz-Hubshman Syndrome	Patent ductus arteriosus, Periventricular heterotopia	OMIM:618974
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycorrhachia, Hydrocephalus, Hypopituitarism, Increased CSF lactate	ORPHA:90065
Fg Syndrome Type 1	Plagiocephaly, Ventriculomegaly, Hydrocephalus, Prominent occiput, Small pituitary gland, Cranios...	ORPHA:93932
Trichinellosis	Excessive daytime somnolence, Dysphagia, Reduced consciousness/confusion, Confusion, Lethargy	ORPHA:863
Dengue Fever	Lethargy	ORPHA:99828
Achondroplasia	Parietal bossing, Hydrocephalus, Frontal bossing	ORPHA:15
Ebola Hemorrhagic Fever	Lethargy, Dysphagia	ORPHA:319218
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Exencephaly, Encephalocele, Abnormality of neuronal migration, Abnormal cortical gyration, Macrog...	ORPHA:2211
Joubert Syndrome With Ocular Defect	Hydrocephalus, Biparietal narrowing, Encephalocele, Agenesis of corpus callosum	ORPHA:220493
Multiple Sulfatase Deficiency	Hydrocephalus, Ventriculomegaly, Increased CSF protein concentration	OMIM:272200
3-Hydroxy-3-Methylglutaric Aciduria	Coma, Hypoglycemic coma, Lethargy, Ataxia	ORPHA:20
Congenital Disorder Of Deglycosylation 2	Partial agenesis of the corpus callosum, Gray matter heterotopia, Hypothalamic hamartoma, Polymic...	OMIM:619775
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Transcobalamin Ii Deficiency	Lethargy, Ataxia	OMIM:275350
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Confusion, Lethargy, Delirium, Tremor	OMIM:277400
Joubert Syndrome	Hydrocephalus, Biparietal narrowing, Encephalocele	ORPHA:475
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Ataxia	OMIM:201470
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation	OMIM:614098
Citrullinemia, Classic	Coma, Lethargy, Ataxia	OMIM:215700
Amoebiasis Due To Free-Living Amoebae	Coma, Ataxia, Loss of consciousness, Confusion, Lethargy, Restlessness	ORPHA:68
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Agenesis of corpus callosum, Colpocephaly	OMIM:609053
Triploidy	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:3376
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Ventriculomegaly	OMIM:614576
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Lateral ventricle dilatation, Hydrocephalus, Prominent occiput, Partial agenesis of the corpus ca...	OMIM:210710
Iniencephaly	Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Hol...	ORPHA:63259
Holocarboxylase Synthetase Deficiency	Coma, Lethargy	OMIM:253270
Lowry-Maclean Syndrome	Hydrocephalus, Craniosynostosis, Trigonocephaly	ORPHA:2409
Carnitine-Acylcarnitine Translocase Deficiency	Coma, Lethargy	ORPHA:159
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Midface retrusion, Hydrocephalus, Plagiocephaly	OMIM:239300
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:619869
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Lethargy	ORPHA:26793
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:618476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Agenesis of corpus callosum	OMIM:615249
Sim1-Related Prader-Willi-Like Syndrome	Lethargy, Polyphagia	ORPHA:398079
Acrodysostosis 1 With Or Without Hormone Resistance	Brachycephaly, Elevated circulating thyroid-stimulating hormone concentration, Hydrocephalus, Mid...	OMIM:101800
Mosaic Variegated Aneuploidy Syndrome 1	Brachycephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Midface retrusion, D...	OMIM:257300
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Biotinidase Deficiency	Lethargy, Ataxia	OMIM:253260
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Magel2-Related Prader-Willi-Like Syndrome	Impulsivity, Lethargy, Polyphagia	ORPHA:398069
Endocrine-Cerebroosteodysplasia	Ventriculomegaly, Hydrocephalus, Midface retrusion, Dolichocephaly, Holoprosencephaly, Agenesis o...	OMIM:612651
Halperin-Birk Syndrome	Semilobar holoprosencephaly, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly	OMIM:618651
Joubert Syndrome 2	Encephalocele, Hydrocephalus, Dolichocephaly, Frontal bossing, Enlarged fossa interpeduncularis	OMIM:608091
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Griscelli Syndrome	Hydrocephalus, Encephalocele	ORPHA:381
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spastic gait, Coma, Confusion, Lethargy, Progressive cerebellar ataxia	ORPHA:415
Pfeiffer Syndrome Type 2	Cloverleaf skull, Hydrocephalus, Aqueductal stenosis	ORPHA:93259
Lateral Meningocele Syndrome	Meningocele, Hydrocephalus, Dolichocephaly, Platybasia, Thickened calvaria	OMIM:130720
Achard Syndrome	Brachycephaly, Broad skull	OMIM:100700
Symptomatic Form Of Hemochromatosis Type 1	Lethargy	ORPHA:465508
Joubert Syndrome 14	Meningocele, Hydrocephalus, Encephalocele, Dandy-Walker malformation	OMIM:614424
Methylmalonic Aciduria, Cblb Type	Coma, Lethargy	OMIM:251110
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Agenesis of corpus callosum, Abnormality of neuronal migration, Death in infancy, Polymicrogyria	OMIM:608836
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus, Midface retrusion, Frontal bossing	OMIM:616482
Chromosome 1P36 Deletion Syndrome, Distal	Brachycephaly, Lateral ventricle dilatation, Hydrocephalus, Midface retrusion, Frontal bossing, A...	OMIM:607872
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Neonatal death, Polymicrogyria	OMIM:614887
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Reduced natural killer cell count, Perianal abscess, Weight loss, Lymphocytosis, Thrombocytosis, ...	OMIM:301074
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Peroxisome Biogenesis Disorder 5A (Zellweger)	Vegetative state, Athetosis, Lethargy	OMIM:614866
Desmosterolosis	Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly, Frontal bossing	OMIM:602398
Isolated Thyroid-Stimulating Hormone Deficiency	Lethargy, Attention deficit hyperactivity disorder, Hypercholesterolemia	ORPHA:90674
Emanuel Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:609029
Tetrasomy 5P	Hydrocephalus, Midface retrusion	ORPHA:3309
Mitochondrial Trifunctional Protein Deficiency 1	Lethargy	OMIM:609015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Necrotizing Enterocolitis	Lethargy	ORPHA:391673
16P13.11 Microdeletion Syndrome	Holoprosencephaly, Abnormality of neuronal migration, Agenesis of corpus callosum	ORPHA:261236
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619312
Marfanoid-Progeroid-Lipodystrophy Syndrome	Scaphocephaly, Hydrocephalus, Craniosynostosis, Lateral ventricular asymmetry	OMIM:616914
Humeroradial Synostosis With Craniofacial Anomalies	Brachycephaly, Plagiocephaly, Frontal bossing	OMIM:236410
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic Adhesion, Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618929
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Sagittal craniosynostosis, Ventriculomegaly, Lateral ventricle dilatation, Frontal bossing, Progr...	ORPHA:500150
Knobloch Syndrome	Calvarial skull defect, Occipital encephalocele, Hydrocephalus, Midface retrusion	ORPHA:1571
Emanuel Syndrome	Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:96170
Argininosuccinic Aciduria	Coma, Lethargy, Ataxia	OMIM:207900
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Neu-Laxova Syndrome	Abnormality of neuronal migration, Abnormal cortical gyration, Spina bifida, Macrogyria, Lissence...	ORPHA:2671
Adams-Oliver Syndrome	Calvarial skull defect, Hydrocephalus, Encephalocele	ORPHA:974
Mucopolysaccharidosis, Type Ii	Scaphocephaly, Hydrocephalus, Dolichocephaly	OMIM:309900
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Arachnoid Cyst	Encephalocele, Hydrocephalus, Abnormal occipital bone morphology, Holoprosencephaly, Enlarged fos...	ORPHA:2356
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal neuron morphology, Abnormality of neuronal migration	ORPHA:163681
Raine Syndrome	Brachycephaly, Plagiocephaly, Brachyturricephaly, Hydrocephalus, Midface retrusion	OMIM:259775
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Ventriculomegaly	OMIM:614969
Renal Hypoplasia, Bilateral	Lethargy	ORPHA:97362
Periventricular Nodular Heterotopia	Patent ductus arteriosus, Periventricular heterotopia	ORPHA:98892
Fanconi Anemia, Complementation Group B	Hydrocephalus, Ventriculomegaly	OMIM:300514
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus, Bicoronal synostosis	OMIM:619951
Achondroplasia	Hydrocephalus, Midface retrusion, Frontal bossing	OMIM:100800
X-Linked Lymphoproliferative Disease	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	ORPHA:2442
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Lethargy	OMIM:277380
Late-Onset Isolated Acth Deficiency	Decreased circulating cortisol level, Lethargy	ORPHA:199299
Cirrhosis, Familial	Lethargy	OMIM:215600
Cholera	Lethargy, Loss of consciousness	ORPHA:173
Isolated Complex I Deficiency	Lethargy, Ataxia	ORPHA:2609
15Q Overgrowth Syndrome	Turricephaly, Agenesis of corpus callosum, Hydrocephalus, Dolichocephaly, Craniosynostosis, Dandy...	ORPHA:314585
Spondyloepimetaphyseal Dysplasia, Krakow Type	Platybasia, Hydrocephalus, Frontal bossing	OMIM:618162
47,Xyy Syndrome	Increased circulating gonadotropin level, Hydrocephalus	ORPHA:8
Biotinidase Deficiency	Lethargy, Ataxia	ORPHA:79241
Diffuse Cutaneous Mastocytosis	Lymphocytosis, Abnormality of the spleen, Myeloproliferative disorder	ORPHA:79456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Encephalocele, Ventriculomegaly, Agenesis of corpus callosum	OMIM:613150
Distal Tetrasomy 15Q	Hydrocephalus, Craniosynostosis, Dandy-Walker malformation	ORPHA:314588
Posterior Meningocele	Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele	ORPHA:268810
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Brachycephaly, Plagiocephaly, Aqueductal stenosis, Hydrocephalus, Midface retrusion, Frontal boss...	OMIM:619512
Shprintzen-Goldberg Craniosynostosis Syndrome	Brachyturricephaly, Hydrocephalus, Dolichocephaly, Frontal bossing, Craniosynostosis	OMIM:182212
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Plagiocephaly, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:457284
Hurler Syndrome	Cranial hyperostosis, Hydrocephalus, Calvarial hyperostosis, Frontal bossing	OMIM:607014
Galloway-Mowat Syndrome	Aqueductal stenosis, Abnormality of neuronal migration, Pachygyria	ORPHA:2065
Holoprosencephaly 9	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Hydrocephal...	OMIM:610829
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:620113
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Hyperparathyroidism, Transient Neonatal	Brachycephaly, Communicating hydrocephalus, Ventriculomegaly, Frontal bossing	OMIM:618188
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Lethargy, Delirium, Ataxia	ORPHA:79282
Methylmalonic Acidemia With Homocystinuria Type Cblf	Lethargy	ORPHA:79284
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Spondylocostal Dysostosis 4, Autosomal Recessive	Spina bifida occulta, Hydrocephalus, Myelomeningocele	OMIM:613686
Visceral Steatosis, Congenital	Coma, Neonatal death, Lethargy	OMIM:228100
Autoimmune Lymphoproliferative Syndrome	Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an...	ORPHA:3261
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy	ORPHA:99832
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Onychotrichodysplasia And Neutropenia	Chronic neutropenia, Lymphocytosis, Neutropenia	OMIM:258360
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Brachycephaly, Hydrocephalus, Midface retrusion, Frontal bossing, Craniosynostosis	OMIM:245600
Pelvis-Shoulder Dysplasia	Spina bifida, Hydranencephaly, Hydrocephalus	ORPHA:2839
Genetic Transient Congenital Hypothyroidism	Lethargy	ORPHA:226316
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Hydrocephalus	OMIM:612284
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Neutropenia, Decreased body weight	ORPHA:1667
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Patent ductus arteriosus, Gray matter heterotopia, Frontal polymicrogyria, Pachygyria, Neonatal d...	OMIM:620024
Encephalocraniocutaneous Lipomatosis	Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Midface retrusion, Hydrocephalus, Decreased response to growth hormone stimulation test	OMIM:616007
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus	ORPHA:1834
Pseudotrisomy 13 Syndrome	Holoprosencephaly, Hydrocephalus, Encephalocele, Agenesis of corpus callosum	OMIM:264480
Familial Hypoaldosteronism	Lethargy	ORPHA:427
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Genitopalatocardiac Syndrome	Hydrocephalus	ORPHA:2075
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation	OMIM:300896
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Holoprosencephaly, Hydrocephalus, Encephalocele, Agenesis of corpus callosum	OMIM:253800
Aymé-Gripp Syndrome	Brachycephaly, Plagiocephaly, Ventriculomegaly, Hydrocephalus, Craniosynostosis	ORPHA:1272
Hereditary Fructose Intolerance	Coma, Lethargy	ORPHA:469
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Aqueductal stenosis, Lateral ventricle dilatation, Hydrocephalus, ...	OMIM:619534
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy	OMIM:615751
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:3301
Alobar Holoprosencephaly	Inability to walk, Limb dystonia, Attention deficit hyperactivity disorder, Dysphagia, Lethargy	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Inability to walk, Limb dystonia, Attention deficit hyperactivity disorder, Dysphagia, Lethargy	ORPHA:93926
Lobar Holoprosencephaly	Inability to walk, Limb dystonia, Attention deficit hyperactivity disorder, Dysphagia, Lethargy	ORPHA:93924
Semilobar Holoprosencephaly	Inability to walk, Limb dystonia, Attention deficit hyperactivity disorder, Dysphagia, Lethargy	ORPHA:220386
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Mitochondrial Complex I Deficiency, Nuclear Type 1	Coma, Lethargy, Ataxia	OMIM:252010
Van Maldergem Syndrome 1	Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopia, Subcortic...	OMIM:601390
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus, Biparietal narrowing	ORPHA:1454
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Weight loss, Eosinophilia	ORPHA:139402
Coffin-Lowry Syndrome	Death in early adulthood, Abnormality of neuronal migration	ORPHA:192
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Hydrocephalus, Ventriculomegaly	OMIM:259720
Lysinuric Protein Intolerance	Oral aversion, Coma, Steatorrhea, Hypercholesterolemia, Lethargy, Hypertriglyceridemia	ORPHA:470
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum	ORPHA:314679
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrocephalus, Encephalocele	ORPHA:1865
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Anencephaly, Hydrocephalus, Communicating hydrocephalus, Dandy-Walker malformat...	OMIM:615287
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Cranial asymmetry	ORPHA:137634
Monosomy 9Q22.3	Hydrocephalus, Ventriculomegaly, Trigonocephaly	ORPHA:77301
Congenital Sialidosis Type 2	Hydrocephalus	ORPHA:93400
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy	ORPHA:90673
Sacral Defect With Anterior Meningocele	Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract	OMIM:600145
6Q Terminal Deletion Syndrome	Gray matter heterotopia, Periventricular heterotopia, Abnormality of neuronal migration, Polymicr...	ORPHA:75857
Glutaryl-Coa Dehydrogenase Deficiency	Subependymal nodules, Communicating hydrocephalus, Ventriculomegaly	ORPHA:25
Monosomy 18Q	Secondary growth hormone deficiency, Hydrocephalus, Biparietal narrowing	ORPHA:1600
Shprintzen-Goldberg Syndrome	Ventriculomegaly, Communicating hydrocephalus, Dolichocephaly, Frontal bossing, Craniosynostosis	ORPHA:2462
Trisomy 17P	Hydrocephalus	ORPHA:261290
7Q11.23 Microduplication Syndrome	Brachycephaly, Ventriculomegaly, Hydrocephalus, Dolichocephaly, Craniosynostosis	ORPHA:96121
Pentalogy Of Cantrell	Anencephaly, Hydrocephalus, Encephalocele	ORPHA:1335
Dural Sinus Malformation	Hydrocephalus, Myelopathy	ORPHA:97339
Hurler Syndrome	Hydrocephalus, Dolichocephaly, Frontal bossing	ORPHA:93473
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Hydrocephalus, Plagiocephaly, Frontal bossing	OMIM:305450
Histiocytoid Cardiomyopathy	Lethargy, Drowsiness, Loss of consciousness	ORPHA:137675
Posterior Urethral Valve	Lethargy	ORPHA:93110
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Frontal bossing	ORPHA:250989
Bohring-Opitz Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:605039
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Alexander Disease	Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum, Frontal bossing	ORPHA:58
Marshall-Smith Syndrome	Ventriculomegaly, Hydrocephalus, Dolichocephaly, Prominent occiput, Midface retrusion, Frontal bo...	OMIM:602535
Thoracoabdominal Syndrome	Anencephaly, Hydrocephalus	OMIM:313850
Jacobsen Syndrome	Holoprosencephaly, Hydrocephalus, Flat occiput, Trigonocephaly	OMIM:147791
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Encephalocele, Periventricular nodular heterotopia, Agenesis of corpus c...	OMIM:603671
Pearson Marrow-Pancreas Syndrome	Lethargy, Steatorrhea	OMIM:557000
Hydranencephaly	Opisthotonus, Lethargy	ORPHA:2177
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Meningoencephalocele, Occipital encep...	OMIM:236670
Complete Atrioventricular Septal Defect	Lethargy	ORPHA:1329
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Holoprosencephaly	Spinal dysraphism, Encephalocele, Anterior hypopituitarism, Hydrocephalus, Panhypopituitarism, Fr...	ORPHA:2162
Khan-Khan-Katsanis Syndrome	Frontal bossing, Ventriculomegaly, Colpocephaly	OMIM:618460
Otopalatodigital Syndrome Type 2	Myelomeningocele, Hydrocephalus, Encephalocele, Thickened calvaria	ORPHA:90652
Mucopolysaccharidosis Type 1	Hydrocephalus, Dolichocephaly	ORPHA:579
Cardiofaciocutaneous Syndrome	Hydrocephalus, Biparietal narrowing, Frontal bossing	ORPHA:1340
Cousin Syndrome	Hydranencephaly, Hydrocephalus, Frontal bossing	OMIM:260660
Whipple Disease	Hydrocephalus	ORPHA:3452
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Plagiocephaly, Hydrocephalus, Midface retrusion, Frontal bossing, Craniosynostosis	ORPHA:536467
Vacterl With Hydrocephalus	Spina bifida, Arrhinencephaly, Hydrocephalus, Aqueductal stenosis	ORPHA:3412
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Plagiocephaly, Colpocephaly	OMIM:620083
Basal Cell Nevus Syndrome 1	Spina bifida, Parietal bossing, Hydrocephalus, Frontal bossing	OMIM:109400
Orofaciodigital Syndrome Type 6	Hypothalamic hamartoma, Abnormality of neuronal migration	ORPHA:2754
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Cardiofaciocutaneous Syndrome 1	Hydrocephalus, Dolichocephaly	OMIM:115150
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Exercise-Induced Malignant Hyperthermia	Confusion, Lethargy, Delirium, Ataxia	ORPHA:466650
Choreoacanthocytosis	Lateral ventricle dilatation	ORPHA:2388
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Patent ductus arteriosus, Periventricular heterotopia	OMIM:618870
Intellectual Developmental Disorder, Autosomal Recessive 57	Polymicrogyria	OMIM:617188
Orofaciodigital Syndrome I	Myelomeningocele, Hydrocephalus, Dolichocephaly, Frontal bossing, Hypothalamic hamartoma, Agenesi...	OMIM:311200
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Lobar holoprosencephaly, Pa...	ORPHA:468631
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Agenesis of corpus callosum, Colpocephaly	OMIM:309801
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Mucopolysaccharidosis, Type Vii	Hydrocephalus	OMIM:253220
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618733
Mirage Syndrome	Hydrocephalus	OMIM:617053
Multiple Endocrine Neoplasia Type 1	Increased circulating cortisol level, Coma, Primary hypercortisolism, Decreased vigilance, Confus...	ORPHA:652
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Peroxisome Biogenesis Disorder 1A (Zellweger)	Patent ductus arteriosus, Gray matter heterotopia, Death in childhood, Polymicrogyria	OMIM:214100
Genitourinary And/Or Brain Malformation Syndrome	Acrania, Holoprosencephaly, Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:618820
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Anencephaly, Hydrocephalus	OMIM:616546
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Frontal bossing, Spina bifida occulta, Partial agenesis of the corpus callosum, Th...	OMIM:300373
Dextrocardia	Hydrocephalus	ORPHA:1666
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Holoprosencephaly 13, X-Linked	Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly	OMIM:301043
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Hepatic periportal necrosis	ORPHA:26791
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Coccidioidomycosis	Hypoglycorrhachia, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Increased CSF pr...	ORPHA:228123
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Brachycephaly, Turricephaly, Hydrocephalus, Midface retrusion, Frontal bossing, Elevated circulat...	ORPHA:95699
Baller-Gerold Syndrome	Brachycephaly, Oxycephaly, Sagittal craniosynostosis, Turricephaly, Brachyturricephaly, Craniosyn...	OMIM:218600
Hereditary Cryohydrocytosis With Reduced Stomatin	Hypoglycorrhachia, Communicating hydrocephalus, Decreased thalamic volume	ORPHA:168577
Stromme Syndrome	Hydrocephalus, Agenesis of corpus callosum	OMIM:243605
Hydrolethalus Syndrome 1	Gray matter heterotopia, Abnormal cortical gyration, Arrhinencephaly, Anencephaly, Stillbirth, Se...	OMIM:236680
Mend Syndrome	Hydrocephalus, Midface retrusion, Dandy-Walker malformation	ORPHA:401973
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Facial hyperostosis, Thickened calvaria, Cranial hyperostosis, Agenesis of corpus ...	ORPHA:2658
Meningioma	Enlarged pituitary gland, Increased circulating prolactin concentration, Neoplasm of the anterior...	ORPHA:2495
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly, Frontal bossing	OMIM:617011
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Mucopolysaccharidosis Type 3	Hydrocephalus, Dolichocephaly, Ventriculomegaly, Craniofacial hyperostosis	ORPHA:581
Mend Syndrome	Hydrocephalus, Midface retrusion, Dandy-Walker malformation	OMIM:300960
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Lethargy	OMIM:617156
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria	OMIM:247200
Mucopolysaccharidosis, Type Vi	Hydrocephalus, Dolichocephaly, Cervical myelopathy	OMIM:253200
Mohr Syndrome	Hydrocephalus	OMIM:252100
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Midface retrusion, Hydrocephalus, Plagiocephaly	ORPHA:3042
Van Maldergem Syndrome 2	Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia	OMIM:615546
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Marburg Hemorrhagic Fever	Coma, Confusion, Lethargy, Drowsiness	ORPHA:99826
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Failure to thrive, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Short-Rib Thoracic Dysplasia 12	Anencephaly, Holoprosencephaly, Hydrocephalus	OMIM:269860
Pineoblastoma	Reduced consciousness/confusion, Lethargy	ORPHA:251909
Glycine Encephalopathy	Lethargy	ORPHA:407
Alpha-Mannosidosis, Infantile Form	Brachycephaly, Communicating hydrocephalus, Thickened calvaria, Cranial hyperostosis, Craniosynos...	ORPHA:309282
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Dubowitz Syndrome	Spina bifida occulta, Hydrocephalus, Craniosynostosis	ORPHA:235
Pagod Syndrome	Meningocele, Encephalocele, Abnormality of neuronal migration, Death in infancy, Spina bifida	ORPHA:991
Holoprosencephaly-Postaxial Polydactyly Syndrome	Holoprosencephaly, Hydrocephalus, Encephalocele	ORPHA:2166
Pseudoaminopterin Syndrome	Sagittal craniosynostosis, Hydrocephalus, Dolichocephaly, Frontal bossing	ORPHA:221120
Hajdu-Cheney Syndrome	Hydrocephalus, Dolichocephaly, Prominent occiput, Platybasia	ORPHA:955
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
H Syndrome	Hydrocephalus	ORPHA:168569
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus, Broad skull	ORPHA:163979
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Agenesis of corpus callosum, Right unicoronal synostosis, Lateral ventricle dilatation, Frontal b...	ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Agenesis of corpus callosum, Right unicoronal synostosis, Lateral ventricle dilatation	ORPHA:261537
Acrofacial Dysostosis 1, Nager Type	Hydrocephalus, Midface retrusion, Aqueductal stenosis	OMIM:154400
Koolen-De Vries Syndrome	Patent ductus arteriosus, Gray matter heterotopia	OMIM:610443
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus, Biparietal narrowing, Frontal bossing	ORPHA:261337
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Ventriculomegaly, Pineal cyst, Spina bifid...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Ventriculomegaly, Pineal cyst, Spina bifid...	ORPHA:363958
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Fructose Intolerance, Hereditary	Coma, Lethargy	OMIM:229600
Meckel Syndrome, Type 1	Dilated fourth ventricle, Ventriculomegaly, Anencephaly, Hydrocephalus, Dandy-Walker malformation...	OMIM:249000
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:242840
Kikuchi-Fujimoto Disease	Leukopenia, Anemia, Neutropenia, Weight loss, Lymphocytosis, Thrombocytopenia, Enlargement of par...	ORPHA:50918
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Lethargy	ORPHA:226307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Midface retrusion, Ventriculomegaly	OMIM:253280
Fanconi Anemia	Ventriculomegaly, Spina bifida, Hydrocephalus, Dolichocephaly, Frontal bossing	ORPHA:84
Neurofibromatosis, Type I	Spina bifida, Hydrocephalus, Aqueductal stenosis	OMIM:162200
22Q11.2 Deletion Syndrome	Meningocele, Turricephaly, Spina bifida, Arrhinencephaly, Hydrocephalus, Platybasia, Occipital my...	ORPHA:567
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Blackfan-Diamond Anemia	Lethargy	ORPHA:124
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Brachycephaly, Hydrocephalus, Ventriculomegaly	ORPHA:2072
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus	ORPHA:505248
Meckel Syndrome	Encephalocele, Anencephaly, Hydrocephalus, Lobar holoprosencephaly, Dandy-Walker malformation	ORPHA:564
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy	OMIM:218700
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Agenesis of corpus callosum	OMIM:227646
Microphthalmia With Limb Anomalies	Arrhinencephaly, Hydrocephalus, Frontal bossing	ORPHA:1106
Fontaine Progeroid Syndrome	Brachycephaly, Turricephaly, Coronal craniosynostosis, Hydrocephalus, Midface retrusion, Craniosy...	OMIM:612289
Campomelic Dysplasia	Spinal dysraphism, Spina bifida, Hydrocephalus, Midface retrusion, Frontal bossing	OMIM:114290
Kabuki Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2322
Trisomy 8P	Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation	ORPHA:264450
Chilton-Okur-Chung Neurodevelopmental Syndrome	Anterior pituitary hypoplasia, Plagiocephaly, Mild fetal ventriculomegaly, Communicating hydrocep...	OMIM:619841
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Plagiocephaly, Ventriculomegaly, Hydrocephalus, Dolichocephaly, Decreased CSF 5-methyltetrahydrof...	OMIM:619475
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Patent ductus arteriosus, Abnormality of neuronal migration	ORPHA:464311
Osteogenesis Imperfecta	Brachycephaly, Noncommunicating hydrocephalus, Ventriculomegaly, Hydrocephalus, Prominent occiput	ORPHA:666
Bilateral Perisylvian Polymicrogyria	Bilateral perisylvian polymicrogyria, Abnormality of neuronal migration, Perisylvian predominant ...	ORPHA:98889
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Smith-Lemli-Opitz Syndrome	Patent ductus arteriosus, Periventricular heterotopia, Death in infancy, Hydrocephalus, Holoprose...	OMIM:270400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia	ORPHA:453499
Limb Body Wall Complex	Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Spina bifida occulta	ORPHA:2369
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
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
Cryptococcosis	Hydrocephalus	ORPHA:1546
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus, Midface retrusion, Agenesis of corpus callosum	ORPHA:2556
Orofaciodigital Syndrome Xiv	Patent ductus arteriosus, Periventricular heterotopia, Simplified gyral pattern, Holoprosencephal...	OMIM:615948
Full Nf2-Related Schwannomatosis	Hydrocephalus, Myelopathy	ORPHA:637
Yunis-Varon Syndrome	Arrhinencephaly, Hydrocephalus, Dolichocephaly, Abnormal occipital bone morphology, Abnormal pari...	ORPHA:3472
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
Cockayne Syndrome A	Normal pressure hydrocephalus, Ventriculomegaly, Thickened calvaria	OMIM:216400
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Holoprosencephaly, Abnormality of neuronal migration	ORPHA:3186
Paroxysmal Nocturnal Hemoglobinuria	Lethargy, Dysphagia	ORPHA:447
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Wiedemann-Rautenstrauch Syndrome	Brachycephaly, Agenesis of corpus callosum, Hydrocephalus, Frontal bossing, Parietal bossing, Dan...	OMIM:264090
Loeys-Dietz Syndrome 1	Hydrocephalus, Craniosynostosis	OMIM:609192
Wolf-Hirschhorn Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Craniofacial asymmetry	OMIM:194190
Hajdu-Cheney Syndrome	Hydrocephalus	OMIM:102500
Fraser Syndrome 1	Calvarial skull defect, Hydrocephalus, Encephalocele, Myelomeningocele	OMIM:219000
Peters Plus Syndrome	Brachycephaly, Ventriculomegaly, Anterior hypopituitarism, Hydrocephalus, Frontal bossing, Spina ...	ORPHA:709
Heterotaxy, Visceral, 1, X-Linked	Hydrocephalus, Myelomeningocele, Aqueductal stenosis	OMIM:306955
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Gaucher Disease	Hydrocephalus, Ventriculomegaly	ORPHA:355
Nijmegen Breakage Syndrome	Abnormality of neuronal migration	ORPHA:647
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:457359
Cockayne Syndrome B	Normal pressure hydrocephalus, Thickened calvaria	OMIM:133540
Liver Disease, Severe Congenital	Pancreatic hypoplasia, Leukopenia, Anemia, Biliary hyperplasia, Lymphocytosis, Hydrocele testis, ...	OMIM:619991
Arima Syndrome	Occipital meningocele, Gray matter heterotopia	OMIM:243910
Eisenmenger Syndrome	Lethargy	ORPHA:97214
Costello Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:218040
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:3455
Split Cord Malformation	Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele	ORPHA:573278
Coffin-Siris Syndrome 12	Midface retrusion, Noncommunicating hydrocephalus, Dolichocephaly, Frontal bossing	OMIM:619325
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus	OMIM:619321
Oeis Complex	Hydrocephalus, Myelomeningocele	OMIM:258040
Otopalatodigital Syndrome, Type Ii	Spina bifida, Hydrocephalus, Midface retrusion, Frontal bossing	OMIM:304120
Peters-Plus Syndrome	Ventriculomegaly, Hydrocephalus, Frontal bossing, Craniosynostosis, Agenesis of corpus callosum	OMIM:261540
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
Tuberous Sclerosis Complex	Subependymal nodules, Noncommunicating hydrocephalus, Pituitary adenoma	ORPHA:805
Focal Dermal Hypoplasia	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Agenesis of corpus callosum	OMIM:305600
Loeys-Dietz Syndrome 2	Hydrocephalus, Craniosynostosis	OMIM:610168
Neurofibromatosis Type 1	Hydrocephalus	ORPHA:636
Fetal Akinesia Deformation Sequence 1	Hydrocephalus	OMIM:208150
Tetrasomy 9P	Hydrocephalus, Dandy-Walker malformation	ORPHA:3310
Mucopolysaccharidosis Type 2	Communicating hydrocephalus	ORPHA:580
Genitopatellar Syndrome	Agenesis of corpus callosum, Periventricular heterotopia, Pachygyria, Colpocephaly	OMIM:606170
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus	ORPHA:363700
Roberts-Sc Phocomelia Syndrome	Brachycephaly, Hydrocephalus, Craniosynostosis, Frontal encephalocele	OMIM:268300
Simpson-Golabi-Behmel Syndrome, Type 1	Hydrocephalus, Agenesis of corpus callosum, Trigonocephaly	OMIM:312870
Exstrophy-Epispadias Complex	Spina bifida, Hydrocephalus	ORPHA:322
Townes-Brocks Syndrome 1	Holoprosencephaly, Hydrocephalus	OMIM:107480
Proteus Syndrome	Gray matter heterotopia	ORPHA:744
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780
Mowat-Wilson Syndrome	Patent ductus arteriosus, Periventricular heterotopia, Agenesis of corpus callosum, Polymicrogyria	ORPHA:2152
Craniofacial Microsomia	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 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
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

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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^{tm1c(KOMP)Wtsi}	Wild type floxed exon (post-Flp)	Mice
Mboat7^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

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Gene: Mboat7 MGI:1924832

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Echo

Adult LacZ

X-ray

X-ray

MicroCT E18.5

Auditory Brain Stem Response

Immunophenotyping

Immunophenotyping

Human diseases caused by Mboat7 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data