Gene Summary

Name:
membrane bound O-acyltransferase domain containing 7
Synonyms:
Lpiat1,  mBB1,  5730589L02Rik,  Leng4

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lean body mass Mboat7tm1b(KOMP)Wtsi HET Early adult 1.40×10-05
preweaning lethality, incomplete penetrance Mboat7tm1b(KOMP)Wtsi HOM   Early adult 0.00
small seminal vesicle Mboat7tm1b(KOMP)Wtsi HET Early adult 0.00
increased lymphocyte cell number Mboat7tm1b(KOMP)Wtsi HET Early adult 9.53×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 50% (1 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 50% (1 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 50% (1 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Vascular system  Wholemount images heterozygote 50% (1 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

19 Images

MicroCT E18.5

Embryo reconstruction

3 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Auditory Brain Stem Response

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

4 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Decreased CSF asialotransferrin to transferrin ratio, Lateral ventricle ... OMIM:620315
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis OMIM:123155
Band Heterotopia
Plagiocephaly, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation, Ventricu... OMIM:600348
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Frontal bossing, Dolichocephaly, Orbital craniosynostosis ORPHA:1538
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Trigonocep... OMIM:609637
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Dandy-Wal... OMIM:616602
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly, Lateral ventricle dilatation OMIM:619972
Kleeblattschaedel
Hydrocephalus, Cloverleaf skull, Craniosynostosis OMIM:148800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Dandy-Wal... OMIM:618736
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Anorexia, Lethargy, Gait disturbance ORPHA:79283
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
Agyria, Gray matter heterotopia, Death in infancy, Pachygyria, Agenesis of corpus callosum, Lisse... OMIM:300067
Developmental And Epileptic Encephalopathy 92
Difficulty walking, Inability to walk, Dystonia, Ataxia, Lethargy OMIM:617829
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Brachycephaly, Plagiocephaly, Dilated third ventricle, Frontal bossing, Lateral ventricle dilatat... OMIM:617296
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:604213
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Global Developmental Delay With Or Without Impaired Intellectual Development
Frontal bossing, Plagiocephaly, Lateral ventricle dilatation OMIM:618330
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus ca... ORPHA:101029
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:615411
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Lissencephaly 3
Polymicrogyria, Agyria, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Lissenc... OMIM:611603
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida, Dolichocephaly, Calvarial skull defect ORPHA:1931
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Choreoathetosis, Lethargy, Paroxysmal lethargy OMIM:606777
Lissencephaly 1
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:607432
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Brachycephaly, Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:619244
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Restlessness, Lethargy, Aggressive behavior OMIM:605899
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Craniosynostosis, Brachycephaly OMIM:612247
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ... OMIM:613154
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Ataxia, Lethargy OMIM:618224
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Macrocephaly, Benign Familial
Ventriculomegaly, Frontal bossing, Dolichocephaly, Biparietal narrowing OMIM:153470
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly, Ventriculomegaly, Agenesis of corpus callosum OMIM:620200
Microlissencephaly
Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Per... ORPHA:1083
X-Linked Intellectual Disability, Wilson Type
Brachycephaly, Lateral ventricle dilatation ORPHA:85290
Gómez-López-Hernández Syndrome
Hydrocephalus, Turricephaly, Brachycephaly ORPHA:1532
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Generalized dystonia, Oculogyric crisis, Limb dystonia, Gait ataxia, Focal dystonia... ORPHA:101150
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Brachycephaly, Plagiocephaly, Hydrocephalus, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Homocystinuria Without Methylmalonic Aciduria
Ataxia, Lethargy ORPHA:622
Methylmalonic Acidemia With Homocystinuria
Lethargy, Gait disturbance ORPHA:26
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy OMIM:613710
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Malan Overgrowth Syndrome
Plagiocephaly, Frontal bossing, Lateral ventricle dilatation, Ventriculomegaly, Scaphocephaly ORPHA:420179
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Ataxia, Lethargy OMIM:618683
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Gray matter heterotopia, Pachygyria ORPHA:1084
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation OMIM:613443
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Craniotelencephalic Dysplasia
Craniosynostosis, Hydrocephalus, Frontal bossing, Agenesis of corpus callosum, Frontal encephalocele ORPHA:1528
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Frontal bossing, Colpocephaly ORPHA:2185
Acalvaria
Hydrocephalus, Calvarial skull defect, Holoprosencephaly, Spina bifida ORPHA:945
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Developmental And Epileptic Encephalopathy 40
Choreoathetosis, Lethargy OMIM:617065
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
D-2-Hydroxyglutaric Aciduria 1
Frontal bossing, Subependymal cysts, Elevated CSF D-2-hydroxyglutaric acid concentration, Lateral... OMIM:600721
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly, Ventriculomegaly OMIM:300699
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Fried Syndrome
Hydrocephalus, Thickened calvaria ORPHA:85335
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Severe Canavan Disease
Inability to walk, Lethargy, Oral-pharyngeal dysphagia ORPHA:314911
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:303350
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Early Myoclonic Encephalopathy
Dysphagia, Lethargy ORPHA:1935
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Unila... OMIM:618577
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Classic Glucose Transporter Type 1 Deficiency Syndrome
Choreoathetosis, Ataxia, Lethargy, Dystonia ORPHA:71277
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Craniofacial Dyssynostosis With Short Stature
Brachycephaly, Hydrocephalus, Brachyturricephaly, Frontal bossing, Abnormal shape of the occiput,... OMIM:218350
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
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Ventriculomegaly, Plagiocephaly ORPHA:521390
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele, Dandy-Walker malformation, Dilated third ventricle, Frontal... ORPHA:397715
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Polymicrogyria Due To Tubb2B Mutation
Agenesis of corpus callosum, Lateral ventricle dilatation ORPHA:300573
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased CSF lactate, Abnormal CSF pyruvate family amino acid concentration, Agenesis of corpus ... ORPHA:79243
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Plagiocephaly, Lateral ventricle dilatation OMIM:617751
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Lateral ventricle dilatation ORPHA:284417
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Congenital Muscular Dystrophy, Fukuyama Type
Brachycephaly, Plagiocephaly, Hydrocephalus, Dolichocephaly, Ventriculomegaly ORPHA:272
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Truncal ataxia, Head titubation, Dystonia, Ataxia, Lethargy, Dysmetria OMIM:250620
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Dystonia, Dysphagia, Choreoathetosis, Lethargy OMIM:233910
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt... OMIM:604317
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Ataxia, Lethargy OMIM:246900
Cyclic Vomiting Syndrome
Anorexia, Attention deficit hyperactivity disorder, Ataxia, Lethargy OMIM:500007
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation OMIM:607596
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, Plagiocephaly, Alobar holoprosencephaly, Dolichocephaly, Agenesis of corpus callos... OMIM:615433
Classic Galactosemia
Gait imbalance, Depression, Gait disturbance, Action tremor, Dystonia, Ataxia, Attention deficit ... ORPHA:79239
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation ORPHA:544488
Glutamine Deficiency, Congenital
Decreased CSF glutamine concentration, Subependymal cysts, Lateral ventricle dilatation OMIM:610015
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Agenesis of corpus callosum OMIM:614120
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus, Dolichocephaly, Scaphocephaly OMIM:248000
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Brachycephaly, Lateral ventricle dilatation OMIM:619995
Developmental And Epileptic Encephalopathy 65
Ventriculomegaly, Plagiocephaly OMIM:618008
Central Diabetes Insipidus
Polydipsia, Depression, Lethargy, Anorexia ORPHA:178029
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Ventriculomegaly, Occipital encephalocele ORPHA:324416
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy ORPHA:26792
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput ORPHA:2898
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Tremor, Lethargy ORPHA:276608
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Ataxia, Dysphagia, Lethargy OMIM:618226
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Episodic ataxia, Dystonia, Choreoathetosis, Lethargy OMIM:312170
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:619302
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Ventriculomegaly, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation, Lateral ven... OMIM:618291
Hereditary Central Diabetes Insipidus
Polydipsia, Lethargy ORPHA:30925
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Craniosynostosis, Frontal bossing, Dolichocephaly ORPHA:1516
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Leukoencephalopathy With Vanishing White Matter 1
Unsteady gait, Lethargy, Gait disturbance OMIM:603896
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly, Partial agenesis of the corpus callosum OMIM:304100
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Frontal bossing, Lateral ventricle dilatation OMIM:614105
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Meningocele, Polymicrogyria, Gray matter hete... ORPHA:101030
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Choreoathetosis, Lethargy, Dystonia ORPHA:79312
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly, Agenesis of corpus callosum ORPHA:459074
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Craniosynostosis, Thickened calvaria ORPHA:178377
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle, Frontal bossing, Dolichocephaly OMIM:220220
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Craniosynostosis, Frontal bossing, Agenesis of corpus callosum ORPHA:380
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Ventriculomegaly, Dilated third ventricle OMIM:615574
Basel-Vanagaite-Smirin-Yosef Syndrome
Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation ORPHA:464738
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Agenesis of corpus callosum OMIM:619301
Cach Syndrome
T2 hypointense thalamus, Lateral ventricle dilatation ORPHA:135
Pontocerebellar Hypoplasia, Type 13
Dandy-Walker malformation, Lateral ventricle dilatation OMIM:618606
Pyruvate Dehydrogenase Deficiency
Tremor, Gait disturbance, Dystonia, Ataxia, Choreoathetosis, Lethargy ORPHA:765
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Inability to walk, Craniofacial dystonia, Gait ataxia, Action tremor, Dystoni... OMIM:607483
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Dysgyria, Hydrocephalus, Type II lissencephaly, Gray matter heterotopia ORPHA:352682
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Frontal bossing, Dolichocephaly, Agenesis of corpus callosum, Lateral ventricle di... OMIM:612863
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Hemimegalencephaly
Ventriculomegaly, Cranial asymmetry ORPHA:99802
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy OMIM:610498
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Dandy-Walker malformation, Lateral ventricle dilatation ORPHA:3078
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, Ventriculomegaly, Plagiocephaly, Agenesis of corpus callosum OMIM:618603
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Dysphagia, Lethargy OMIM:613561
Adenylosuccinate Lyase Deficiency
Brachycephaly, Flat occiput ORPHA:46
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Lethargy OMIM:618225
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hydrocephalus, Dilated third ventricle, Colpocephaly, Lateral ventricle dilatation OMIM:620371
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Abnormal cerebrospinal fluid morphology ORPHA:314404
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum ORPHA:2182
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly ORPHA:35099
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Lethargy, Dystonia ORPHA:289916
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Abnormal calvaria morphology, Hydrocephalus, Trigonocephaly, Frontal bossing, D... OMIM:175700
Aicardi Syndrome
Dandy-Walker malformation, Choroid plexus cyst, Dilated third ventricle, Spina bifida, Lateral ve... OMIM:304050
Lissencephaly 6 With Microcephaly
Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Perivent... OMIM:616212
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Gray matter heterotopia, Pachygyria ORPHA:2512
Hyperinsulinism Due To Ucp2 Deficiency
Agitation, Polyphagia, Lethargy ORPHA:276556
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Plagiocephaly, Abnormal thalamus morphology, Lateral ventricle dil... ORPHA:300570
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum OMIM:307000
Mitochondrial Complex I Deficiency, Nuclear Type 6
Ataxia, Lethargy OMIM:618228
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Frontal bossing, Turricephaly, Brachycephaly ORPHA:93262
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Tongue thrusting, Athetosis, Blepharospasm, Limb dystonia, Exagge... OMIM:608643
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Lethargy OMIM:619386
Citrullinemia Type Ii
Hypertriglyceridemia, Hypercholesterolemia, Hyperactivity, Tremor, Hyperlipidemia, Restlessness, ... ORPHA:247585
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation OMIM:617397
Slc35A2-Cdg
Dandy-Walker malformation, Craniosynostosis, Lateral ventricle dilatation ORPHA:356961
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic gait, Truncal ataxia, Dysdiadochokinesis, Lethargy, Dysmetria OMIM:238970
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy, Gait disturbance OMIM:236270
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Gait imbalance, Lethargy OMIM:618120
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Simplified gyral pattern, Partial agenesis of the corpus callosum OMIM:616171
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Agitation, Polyphagia, Lethargy ORPHA:276575
Muenke Syndrome
Hydrocephalus, Plagiocephaly, Brachycephaly, Coronal craniosynostosis ORPHA:53271
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Frontal bossing, Plagiocephaly, Dolichocephaly, Lateral ventricle dilatation ORPHA:457279
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Susac Syndrome
Apathy, Lethargy, Gait ataxia ORPHA:838
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Agitation, Polyphagia, Lethargy ORPHA:276580
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Lethargy ORPHA:49827
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Brachycephaly, Agenesis of corpus callosum OMIM:109120
Hyperinsulinism Due To Hnf1A Deficiency
Agitation, Polyphagia, Lethargy ORPHA:324575
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Crouzon Syndrome
Brachycephaly, Turricephaly, Hydrocephalus, Multiple suture craniosynostosis, Frontal bossing ORPHA:207
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Frontal bossing ORPHA:2181
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Ataxia, Lethargy, Motor stereotypy ORPHA:927
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Occipital encephalocele, Craniosynostosis OMIM:614416
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly, Colpocephaly OMIM:618731
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Cloverleaf skull, Frontal bossing, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Typhoid
Tremor, Ataxia, Lethargy ORPHA:99745
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation ORPHA:488627
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation OMIM:618914
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Gray matter heterotopia, Subcortic... OMIM:615191
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Ataxia, Lethargy ORPHA:27
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Citrullinemia Type I
Torticollis, Ataxia, Lethargy ORPHA:247525
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Distal Deletion 10Q
Brachycephaly, Spina bifida occulta, Frontal bossing, Lateral ventricle dilatation, Craniosynostosis ORPHA:96148
6Q25 Microdeletion Syndrome
Ventriculomegaly, Plagiocephaly, Agenesis of corpus callosum ORPHA:251056
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocephaly, Ventricul... OMIM:616034
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Frontal bossing ORPHA:163961
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Riboflavin Deficiency
Lethargy OMIM:615026
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
Pierpont Syndrome
Brachycephaly, Ventriculomegaly ORPHA:487825
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy OMIM:617105
Holocarboxylase Synthetase Deficiency
Anorexia, Ataxia, Lethargy ORPHA:79242
Houge-Janssens Syndrome 2
Hydrocephalus, Ventriculomegaly, Plagiocephaly, Agenesis of corpus callosum OMIM:616362
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Abnormality of neuronal migration, 4-layered lissencephaly, Agenesis of corpu... ORPHA:89844
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Loss of ambulation, Ataxia, Lethargy, Gait disturbance OMIM:615838
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy OMIM:618232
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Combined Oxidative Phosphorylation Defect Type 39
Increased CSF lactate, Lateral ventricle dilatation ORPHA:565624
Pontocerebellar Hypoplasia, Type 6
Lethargy OMIM:611523
Temple Syndrome
Hydrocephalus, Frontal bossing, Decreased response to growth hormone stimulation test ORPHA:254516
Developmental And Epileptic Encephalopathy 1
Ventriculomegaly, Plagiocephaly OMIM:308350
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Craniosynostosis, Turricephaly, Brachycephaly ORPHA:171839
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly, Decreased response to growth hormone stimulation test, Brachycep... OMIM:609757
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly OMIM:309545
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus, Coronal craniosynostosis, Frontal bossing, Orbital cr... OMIM:112240
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Orofaciodigital Syndrome Type 14
Dandy-Walker malformation, Dilated third ventricle, Dilated fourth ventricle, Trigonocephaly, Par... ORPHA:434179
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Alexander Disease Type I
Hydrocephalus, Abnormal thalamic MRI signal intensity ORPHA:363717
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy ORPHA:28
Idiopathic Intracranial Hypertension
Depression, Lethargy ORPHA:238624
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation OMIM:619847
Glutaric Acidemia Type 3
Lethargy, Impulsivity ORPHA:35706
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina, Turricephaly OMIM:601224
Non-Distal Duplication 10Q
Brachycephaly, Frontal bossing ORPHA:1695
Pyruvate Dehydrogenase E3 Deficiency
Ataxia, Lethargy ORPHA:2394
Isolated Atp Synthase Deficiency
Dystonia, Ataxia, Lethargy ORPHA:254913
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Lethargy, Gait disturbance OMIM:250940
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly ORPHA:2528
Cornelia De Lange Syndrome 2
Brachycephaly, Ventriculomegaly OMIM:300590
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Communicating hydrocephalus, Frontal bossing, Colpocephaly, Agenesis of corpus cal... OMIM:615219
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Insulinoma
Tremor, Polyphagia, Lethargy ORPHA:97279
Den Hoed-De Boer-Voisin Syndrome
Brachycephaly, Ventriculomegaly, Lateral ventricle dilatation OMIM:619229
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Oculocerebrocutaneous Syndrome
Agenesis of corpus callosum, Gray matter heterotopia, Orbital encephalocele OMIM:164180
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Brachycephaly, Hydrocephalus, Dandy-Walker malformation, Trigonocephaly, Agenesis of corpus callo... ORPHA:459061
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Ventriculomegaly OMIM:300958
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:613153
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation ORPHA:572798
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Joubert Syndrome 30
Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum OMIM:617622
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Death in childhood, Encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, ... OMIM:614643
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly, Cloverleaf skull, Frontal bossing ORPHA:2655
Ritscher-Schinzel Syndrome 1
Brachycephaly, Decreased response to growth hormone stimulation test, Prominent occiput, Hydrocep... OMIM:220210
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell count, Thrombocyt... OMIM:308240
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Ventriculomegaly, Small pituitary gland, Lateral ventricle dilatation, Frontal bossing OMIM:619479
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing OMIM:619264
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Peroxisomal Acyl-Coa Oxidase Deficiency
Brachycephaly, Frontal bossing OMIM:264470
Crouzon Syndrome
Brachycephaly, Lambdoidal craniosynostosis, Hydrocephalus, Coronal craniosynostosis, Frontal boss... OMIM:123500
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gait ataxia, Dystonia, Ataxia, Generalized dystonia, Lethargy, Aggressive behavior OMIM:618321
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Anorexia, Lethargy OMIM:611590
Bainbridge-Ropers Syndrome
Trigonocephaly, Scaphocephaly, Lateral ventricle dilatation OMIM:615485
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Basal Cell Nevus Syndrome 2
Hydrocephalus, Frontal bossing OMIM:620343
Congenital Disorder Of Glycosylation, Type Iig
Lateral ventricle dilatation OMIM:611209
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Lethargy ORPHA:2089
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Craniosynostosis 2
Brachycephaly, Turricephaly, Unicoronal synostosis, Bicoronal synostosis, Trigonocephaly, Frontal... OMIM:604757
Cebalid Syndrome
Brachycephaly, Plagiocephaly, Turricephaly, Platystencephaly, Dolichocephaly OMIM:618774
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Weaver Syndrome
Flat occiput, Ventriculomegaly, Lateral ventricle dilatation OMIM:277590
Mosaic Trisomy 1
Agenesis of corpus callosum, Frontal bossing, Lateral ventricle dilatation ORPHA:1692
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Lateral ventricle dilatation ORPHA:293725
1Q44 Microdeletion Syndrome
Hydrocephalus, Biparietal narrowing, Frontal bossing, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Lethargy ORPHA:156
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Lethargy ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy OMIM:619064
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Spina bifida, Agen... OMIM:207950
N-Acetylglutamate Synthase Deficiency
Anorexia, Lethargy, Aggressive behavior OMIM:237310
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:300952
Cog5-Cdg
Lateral ventricle dilatation ORPHA:263487
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Edinburgh Malformation Syndrome
Hydrocephalus, Frontal bossing ORPHA:1895
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Lethargy OMIM:614299
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventricul... OMIM:225790
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Brachycephaly, Ventriculomegaly, Increased CSF protein concentration, Agenesis of corpus callosum OMIM:218000
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Ataxia, Lethargy OMIM:237300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Ogden Syndrome
Torticollis, Shuffling gait, Lethargy ORPHA:276432
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Noonan Syndrome 14
Lateral ventricle dilatation OMIM:619745
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Opisthotonus, Lethargy OMIM:605711
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Acromelic Frontonasal Dysplasia
Brachycephaly, Encephalocele, Meningocele, Choroid plexus cyst, Anterior pituitary hypoplasia, Ag... ORPHA:1827
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Proboscis, Alobar holoprosencephaly, Hydrocephalus, Dand... OMIM:619895
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele, Small pituitary gland OMIM:614195
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele, Hypothalamic hamartoma, Anterior hypopituitarism OMIM:241800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly, Frontal bossing OMIM:603387
Cole-Carpenter Syndrome 2
Turricephaly, Lambdoidal craniosynostosis, Hydrocephalus, Coronal craniosynostosis, Frontal bossing OMIM:616294
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Agitation, Tremor, Lethargy ORPHA:263455
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina ORPHA:52022
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Dystonia, Lethargy OMIM:277410
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Gabriele-De Vries Syndrome
Dolichocephaly, Lateral ventricle dilatation OMIM:617557
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele ORPHA:65
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Weight loss, Hypochromic anemia ORPHA:514
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia, Patent ductus arteriosus OMIM:300049
Cornelia De Lange Syndrome 5
Brachycephaly, Ventriculomegaly OMIM:300882
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Colpocephaly, Plagiocephaly OMIM:619833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Medulloblastoma
Progressive cerebellar ataxia, Cerebellar ataxia associated with quadrupedal gait, Intention trem... ORPHA:616
Nephronophthisis 18
Hydrocephalus OMIM:615862
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Decreased calvarial ossification, Dolichocephaly, Ventriculom... OMIM:617866
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Frontal bossing OMIM:300863
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:620156
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Bresek Syndrome
Hydrocephalus, Plagiocephaly ORPHA:85284
Propionic Acidemia
Dystonia, Lethargy OMIM:606054
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Dolichocephaly, Prominent occiput OMIM:618672
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Autosomal Dominant Progressive External Ophthalmoplegia
Bradykinesia, Depression, Resting tremor, Tremor, Bipolar affective disorder, Gait disturbance, G... ORPHA:254892
Recombinant Chromosome 8 Syndrome
Brachycephaly, Ventriculomegaly OMIM:179613
Houge-Janssens Syndrome 3
Ventriculomegaly, Frontal bossing, Plagiocephaly OMIM:618354
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation, Occipital encephalocele OMIM:607361
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Brachycephaly, Encephalocele, Coronal craniosynostosis, Frontal bossing, Agenesis of corpus callo... ORPHA:228390
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy, Limb dystonia OMIM:604377
Maple Syrup Urine Disease, Type Ia
Ataxia, Lethargy OMIM:248600
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hydrocephalus, Polymicrogyria, Hyperlipidemia, Abnormality of ... ORPHA:157
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation OMIM:619487
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Brachycephaly OMIM:618859
Prader-Willi Syndrome Due To Translocation
Flat occiput, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation tes... ORPHA:177907
Kufor-Rakeb Syndrome
Bradykinesia, Difficulty walking, Oculogyric crisis, Lingual dystonia, Blepharospasm, Gait distur... ORPHA:306674
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation, Hypothalamic atrophy ORPHA:2822
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Thickened calvaria OMIM:304340
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly, Frontal bossing ORPHA:60040
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Decreased thalamic volume, Dilated fourth ventricle, Agen... ORPHA:370959
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Walker-Warburg Syndrome
Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pac... ORPHA:899
Hemangioblastoma
Hydrocephalus ORPHA:252054
Isovaleric Acidemia
Lethargy OMIM:243500
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Meningococcal Meningitis
Anorexia, Lethargy ORPHA:33475
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Neonatal death, Lethargy OMIM:614922
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Brachycephaly, Frontal bossing, Craniosynostosis ORPHA:314575
Scrub Typhus
Tremor, Lethargy ORPHA:83317
Linear Nevus Sebaceus Syndrome
Plagiocephaly, Prominent occiput, Dandy-Walker malformation, Biparietal narrowing, Frontal bossin... ORPHA:2612
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Frontal bossing, Craniosynostosis, Communicating hydrocephalus ORPHA:1064
Carnitine Deficiency, Systemic Primary
Lethargy OMIM:212140
Beck-Fahrner Syndrome
Brachycephaly, Ventriculomegaly, Extra-axial cerebrospinal fluid accumulation OMIM:618798
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Ataxia, Lethargy OMIM:201100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Cranial asymmetry, Scaphocephaly OMIM:614886
Evans Syndrome
Lethargy ORPHA:1959
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation, Dolichocephaly OMIM:310400
Temple Syndrome
Hydrocephalus, Frontal bossing OMIM:616222
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation OMIM:611134
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Anter... ORPHA:91348
Pfeiffer Syndrome
Hydrocephalus, Cloverleaf skull, Brachyturricephaly, Coronal craniosynostosis OMIM:101600
Pfeiffer Syndrome Type 1
Bicoronal synostosis, Aqueductal stenosis, Brachycephaly ORPHA:93258
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly