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
preweaning lethality, incomplete penetrance Mboat7tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased lymphocyte cell number Mboat7tm1b(KOMP)Wtsi HET Early adult 9.53×10-06
small seminal vesicle Mboat7tm1b(KOMP)Wtsi HET Early adult 0.00
decreased lean body mass Mboat7tm1b(KOMP)Wtsi HET Early adult 1.42×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
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 Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

19 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Auditory Brain Stem Response

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

4 Images

Immunophenotyping

Panel A FCS file(s)

8 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
Autosomal Recessive Non-Syndromic Intellectual Disability
Large basal ganglia, Absent septum pellucidum, Polymicrogyria, Cerebral atrophy, Hypoplasia of th... ORPHA:88616
Intellectual Developmental Disorder, Autosomal Recessive 57
Polymicrogyria, Microcephaly OMIM:617188

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Megalencephaly, Autosomal Dominant
Hydrocephalus, Megalencephaly OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Hydrocephalus, Megalencephaly, Ventriculomegaly OMIM:615938
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Sagittal craniosynostosis, Hydrocephalus OMIM:123155
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Frontal bossing, Orbital craniosynostosis, Hydrocephalus, Dolichocephaly ORPHA:1538
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Pachygyria, Hypoplasia of the corpus callosum, Agyria, Gray matter ... OMIM:615411
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Schizencephaly, Abnormal corpus callosum morphology, Simplifie... OMIM:604317
Holoprosencephaly 5
Lobar holoprosencephaly, Holoprosencephaly, Trigonocephaly, Syntelencephaly, Alobar holoprosencep... OMIM:609637
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Cortical dysplasia, Mi... OMIM:615412
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hemimegalencephaly, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus cal... OMIM:615937
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Flat occiput, Bicoronal synostosis, Brachycephaly, Delayed closure of ... OMIM:618736
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Abnormal cerebral cortex morphology, Abnormal neuron morphology, Abnormal ... ORPHA:329228
Lissencephaly 1
Subcortical band heterotopia, Pachygyria, Agyria, Abnormal cerebral white matter morphology, Gray... OMIM:607432
Microlissencephaly
Cerebral dysmyelination, Periventricular heterotopia, Simplified gyral pattern, Neuronal loss in ... ORPHA:1083
Kleeblattschaedel
Craniosynostosis, Hydrocephalus, Cloverleaf skull OMIM:148800
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Abnormal cerebral cortex morphology, Polymicrogyria, Subcortic... ORPHA:101029
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical hemiatrophy, Hydrocephalus, Cerebral cortical atrophy, Subcortical cerebral atr... ORPHA:2703
Unilateral Hemispheric Polymicrogyria
Dilation of lateral ventricles, Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy ORPHA:363654
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Ventriculomegaly, Polymicrog... OMIM:604213
Lissencephaly, X-Linked, 1
Death in infancy, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly, Agenesis of corpus ... OMIM:300067
Band Heterotopia
Subcortical band heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Agenesis of corpus... OMIM:600348
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum OMIM:300864
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... ORPHA:300573
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Lissencephaly 3
Pachygyria, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Gray matter heterotopia, L... OMIM:611603
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Hydrocephalus, Cortical dysplasia, Microce... OMIM:618709
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Partial agenesis of the corpus callosum, Plagiocephaly, Brachycephaly, F... OMIM:617296
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia, Progressive microcephaly, Hypop... OMIM:608097
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Polymicrogyria OMIM:300982
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Frontal Encephalocele
Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Cerebral calcification, D... ORPHA:1931
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Posterior fossa cyst at the fourth ventricle OMIM:220200
Fanconi Anemia, Complementation Group R
Hydrocephalus, Microcephaly OMIM:617244
Developmental And Epileptic Encephalopathy 92
Dystonia, Ataxia, Inability to walk, Difficulty walking, Lethargy OMIM:617829
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:617967
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Gray matter heterotopia, ... OMIM:617201
Crouzon Syndrome With Acanthosis Nigricans
Midface retrusion, Craniosynostosis, Hydrocephalus, Brachycephaly OMIM:612247
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Congenital Hydrocephalus
Abnormal cortical gyration, Small cerebral cortex, Colpocephaly, Ventriculomegaly, Frontal bossin... ORPHA:2185
Miller-Dieker syndrome (MDS)
Frontal bossing, Midface retrusion, Lissencephaly, Microcephaly DECIPHER:21
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:616816
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Microcephaly OMIM:618185
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy ORPHA:79283
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the corpus callosum, Thick cerebral cortex, Lissencephaly, Periventricular ribbonli... OMIM:618677
Martsolf Syndrome 2
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly OMIM:619420
Alg2-Cdg
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyperintensity of cerebral whi... ORPHA:79326
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Paroxysmal lethargy, Ataxia, Confusion, Lethargy OMIM:606777
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Plagiocephaly, Brachycephaly, Cerebral white matter atrophy, Ventriculom... ORPHA:500055
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Ventriculomegaly, Frontal bossing, Hydrocephalus, Cerebral calcificati... OMIM:617281
Gómez-López-Hernández Syndrome
Midface retrusion, Hydrocephalus, Turricephaly, Brachycephaly ORPHA:1532
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Cerebral calcification ORPHA:99966
D-2-Hydroxyglutaric Aciduria 1
Frontal bossing, Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, ... OMIM:600721
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Thin corpus callosum, Reduced a... OMIM:619517
Hemiparkinsonism-Hemiatrophy Syndrome
Dilation of lateral ventricles, Cerebral cortical hemiatrophy ORPHA:306669
Macrocephaly, Benign Familial
Frontal bossing, Biparietal narrowing, Dolichocephaly, Ventriculomegaly OMIM:153470
Familial Scaphocephaly Syndrome, Mcgillivray Type
Trigonocephaly, Midface retrusion, Dolichocephaly, Ventriculomegaly ORPHA:168624
X-Linked Intellectual Disability, Wilson Type
Dilation of lateral ventricles, Microcephaly, Brachycephaly ORPHA:85290
Craniotelencephalic Dysplasia
Arrhinencephaly, Septo-optic dysplasia, Craniosynostosis, Frontal bossing, Hydrocephalus, Lissenc... ORPHA:1528
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Basal ganglia necrosis, Abnormal CSF pyruvate family ami... ORPHA:79243
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Ventriculomegaly OMIM:614830
Malan Overgrowth Syndrome
Plagiocephaly, Ventriculomegaly, Frontal bossing, Scaphocephaly, Dilation of lateral ventricles, ... ORPHA:420179
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Microcephaly OMIM:618572
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Abnormal shape of the occiput, Brachycephaly, Ventriculomegaly, Frontal bossi... OMIM:218350
Microphthalmia-Brain Atrophy Syndrome
Dilation of lateral ventricles, Corpus callosum atrophy, Microcephaly, Diffuse cerebral atrophy ORPHA:77299
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Ataxia, Lethargy OMIM:618224
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Microcephaly, Cerebral calcification ORPHA:1980
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly OMIM:602200
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy OMIM:613710
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Hydrocephalus, Abnormal cerebral white matter morphology, Gray matter heterotopia, Type... ORPHA:352682
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebral white matter hypoplasia, Craniosynostosis, Simplified gyral pattern, Primary microcephal... ORPHA:284417
Mental Retardation, Autosomal Dominant 48
Dilated fourth ventricle, Polymicrogyria, Dilation of lateral ventricles, Hypoplasia of the corpu... OMIM:617751
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy ORPHA:26
Lissencephaly 5
Subcortical band heterotopia, Leukoencephalopathy, Hypoplasia of the corpus callosum, Porencephal... OMIM:615191
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Bradykinesia, Focal dystonia, Ataxia, Limb dystonia, Generalized dystonia, Oculo... ORPHA:101150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Type II lissencephaly, Hydrocephalus, Ventriculomegaly OMIM:613154
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Calvarial skull defect ORPHA:945
Homocystinuria Without Methylmalonic Aciduria
Ataxia, Lethargy ORPHA:622
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Fried Syndrome
Thickened calvaria, Hydrocephalus, Cerebral calcification ORPHA:85335
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Brachycephaly, Unilambdoid synostosis, Ventriculomegaly, Hydrocephalus, Midface re... OMIM:618577
Early Myoclonic Encephalopathy
Dysphagia, Lethargy ORPHA:1935
Hemimegalencephaly
Abnormal neuron morphology, Hemimegalencephaly, Pachygyria, Polymicrogyria, Gray matter heterotop... ORPHA:99802
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Microcephaly, Cerebral atrophy OMIM:300884
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Microcephaly, Ventriculomegaly OMIM:303350
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Bradykinesia, Lethargy OMIM:618683
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly, Diffuse cerebral atrophy, Microcephaly ORPHA:2898
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:300064
Adenylosuccinate Lyase Deficiency
Flat occiput, Hypointensity of cerebral white matter on MRI, Brachycephaly, Prominent metopic rid... ORPHA:46
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Microcephaly, Cerebral calcification ORPHA:1314
Severe X-Linked Intellectual Disability, Gustavson Type
Dandy-Walker malformation, Large fontanelles, Dilated fourth ventricle, Small fontanelle, Dilatio... ORPHA:3078
Severe Canavan Disease
Oral-pharyngeal dysphagia, Inability to walk, Lethargy ORPHA:314911
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Dandy-Walker malformation, Meningocele, Colpocephaly, Abnormal corpus ca... ORPHA:397715
Sporadic Fetal Brain Disruption Sequence
Microcephaly, Prominent occiput, Plagiocephaly, Cerebral cortical atrophy ORPHA:1665
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Dilation of lateral ventricles, Microcephaly OMIM:619278
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Leukoencephalopathy, Abnormal cerebral white matter morphology, Bilateral gener... ORPHA:178469
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy OMIM:617105
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Achondroplasia
Frontal bossing, Midface retrusion, Hydrocephalus, Megalencephaly OMIM:100800
Greig Cephalopolysyndactyly Syndrome
Metopic synostosis, Trigonocephaly, Craniosynostosis, Ventriculomegaly, Frontal bossing, Scaphoce... OMIM:175700
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration, Congenital intracerebral calcification, Microcephaly OMIM:236795
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplastic hippocampus, Dilation of lateral ventricles, Hypo... ORPHA:208447
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Plagiocephaly, Partial agenesis of the corpus callosum, Flat occiput, Dysgenesis of the hippocamp... ORPHA:300570
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Brachycephaly, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Hydroc... ORPHA:272
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum... ORPHA:544488
Glutamine Deficiency, Congenital
Decreased CSF glutamine concentration, Dilation of lateral ventricles, Hypoplasia of the corpus c... OMIM:610015
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Neonatal death, Polymicrogyria, Microcephaly OMIM:619602
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Tremor, Inability to walk, Generalized dystonia, Oculog... ORPHA:255
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria ORPHA:250972
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Dystonia, Ataxia, Lethargy ORPHA:71277
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Coma, Drowsiness, Lethargy ORPHA:276608
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
1Q21.1 Microduplication Syndrome
Frontal bossing, Hydrocephalus ORPHA:250994
Hereditary Central Diabetes Insipidus
Polydipsia, Lethargy ORPHA:30925
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Trigonocephaly, Prominent metopic ridge, Brachycephaly OMIM:275595
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Slc35A2-Cdg
Dandy-Walker malformation, Cerebral white matter atrophy, Craniosynostosis, Abnormal cerebral whi... ORPHA:356961
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Dysphagia, Ataxia, Lethargy OMIM:618226
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Hydrocephalus, Microcephaly OMIM:304100
Hyperinsulinism Due To Ucp2 Deficiency
Drowsiness, Polyphagia, Loss of consciousness, Hypoglycemic coma, Lethargy ORPHA:276556
Pontocerebellar Hypoplasia, Type 13
Dandy-Walker malformation, Hypoplastic hippocampus, Dilation of lateral ventricles, Hypoplasia of... OMIM:618606
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle... OMIM:220220
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification ORPHA:73256
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Microcephaly ORPHA:2216
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Frontal bossing, Orbital craniosynostosis, Hydrocephalus, Coronal cr... OMIM:112240
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Hydrocephalus, Ventriculomegaly ORPHA:324416
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Plagiocephaly, Midface retrusion, Abnormal corpus callosum morphology, Cavum septum pellucidum, F... ORPHA:457279
Craniosynostosis 6
Dandy-Walker malformation, Plagiocephaly, Brachycephaly, Craniosynostosis, Abnormal corpus callos... OMIM:616602
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Dystonia, Dysphagia, Lethargy OMIM:233910
Pettigrew Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Cerebral calcification, Abnormality o... OMIM:304340
Craniofacial Dyssynostosis
Craniosynostosis, Frontal bossing, Hydrocephalus, Dolichocephaly, Hypoplasia of the corpus callosum ORPHA:1516
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Frontal bossing, Hydrocephalus, Dilation of lateral ventricles, Dolichocephaly, A... OMIM:612863
Encephalopathy, Recurrent, Of Childhood
Athetosis, Lethargy, Truncal ataxia, Intention tremor OMIM:130950
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Cavum septum pellucidum, Cerebral atrophy, Dilation of lateral ventricle... ORPHA:464738
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Abnormality of the cerebrospinal fluid, Abnormal cerebral white matter m... ORPHA:314404
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Ataxia, Lethargy OMIM:246900
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Drowsiness, Polyphagia, Loss of consciousness, Hypoglycemic coma, Lethargy ORPHA:276575
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Simplified gyral pattern, Periventricular white matter hyperintensities, Hydrocephalus, Microcephaly OMIM:619470
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly, Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:521390
Cach Syndrome
Dysgyria, Cerebral atrophy, Dilation of lateral ventricles, T2 hypointense thalamus, Microcephaly ORPHA:135
Combined Oxidative Phosphorylation Defect Type 39
Deep white matter hypodensities, Abnormal corpus callosum morphology, Abnormal cerebral white mat... ORPHA:565624
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
N-Acetylglutamate Synthase Deficiency
Coma, Confusion, Lethargy OMIM:237310
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Episodic ataxia, Lethargy OMIM:312170
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Ventriculomegaly, Pro... ORPHA:488627
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Drowsiness, Polyphagia, Loss of consciousness, Hypoglycemic coma, Lethargy ORPHA:276580
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Lethargy OMIM:618225
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Dysphagia, Opisthotonus, Truncal titubation, Coma, Inability to walk, Craniofacial dyst... OMIM:607483
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum... ORPHA:2512
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy ORPHA:26792
Hyperinsulinism Due To Hnf1A Deficiency
Drowsiness, Polyphagia, Loss of consciousness, Hypoglycemic coma, Lethargy ORPHA:324575
Developmental And Epileptic Encephalopathy 65
Plagiocephaly, Cerebral atrophy, Microcephaly, Ventriculomegaly OMIM:618008
Citrullinemia Type Ii
Drowsiness, Hyperlipidemia, Abnormal eating behavior, Tremor, Hyperactivity, Coma, Hypercholester... ORPHA:247585
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Glycerol Kinase Deficiency
Coma, Loss of consciousness, Hypertriglyceridemia, Lethargy OMIM:307030
Brain Small Vessel Disease 2
Subcortical heterotopia, Schizencephaly, Porencephalic cyst, Polymicrogyria OMIM:614483
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Meningocele, Myelomen... ORPHA:101030
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilation of lateral ventricles, Agenesis of corpus callosum OMIM:300952
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
Aicardi Syndrome
Dilated third ventricle, Partial agenesis of the corpus callosum, Choroid plexus cyst, Dandy-Walk... OMIM:304050
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Simplified gyral pattern, Ventriculomegaly, Frontal bo... OMIM:615219
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Progressive microcephaly, Hydrocephalus, Cerebral... OMIM:610333
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Pachygyria, Agyria, Dilation ... ORPHA:2148
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus c... OMIM:225790
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy OMIM:618228
Mental Retardation, Autosomal Dominant 36
Plagiocephaly, Ventriculomegaly, Hydrocephalus, Prominent metopic ridge, Hypoplasia of the corpus... OMIM:616362
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Dilation of lateral ventricles, Hydrocephalus OMIM:619575
Mental Retardation, Autosomal Dominant 13
Abnormality of neuronal migration, Pachygyria, Hypoplasia of the corpus callosum, Microcephaly OMIM:614563
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, Brachycephaly, Ventriculomegaly, Alobar holoprosencephaly, Dolichocephaly, Agenesi... OMIM:615433
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele OMIM:182940
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Craniosynostosis, Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria, Microcephaly, Abnormal cerebral white matter morphology ORPHA:370980
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Aqueduct... ORPHA:2182
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly, Colpocephaly, Polymicrogyria, Midface retrusion, Microcephaly OMIM:618731
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Dilation of lateral ventricles, Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy OMIM:607485
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Central Diabetes Insipidus
Polydipsia, Excessive daytime somnolence, Lethargy ORPHA:178029
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Lissencephaly, Ventriculomegaly, Pachygyria, Hydrocephalus, Agyria, Ab... OMIM:613153
Cutis Laxa, Autosomal Recessive, Type Iib
Large fontanelles, Frontal bossing, Hydrocephalus, Midface retrusion, Agenesis of corpus callosum... OMIM:612940
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Aqueductal stenosis OMIM:307000
Classic Galactosemia
Postural tremor, Gait disturbance, Dystonia, Gait imbalance, Ataxia, Action tremor, Attention def... ORPHA:79239
Galactosemia
Postural tremor, Gait disturbance, Dystonia, Gait imbalance, Ataxia, Action tremor, Lethargy ORPHA:352
Leukoencephalopathy With Vanishing White Matter
Unsteady gait, Gait disturbance, Lethargy OMIM:603896
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Simplified g... OMIM:619302
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Secondary microcephaly, Hypoplasia of the corpus callosum, Hydrocephalus, Cerebral atrophy ORPHA:397951
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Gait disturbance, Lethargy OMIM:236270
Lissencephaly 6 With Microcephaly
Partial agenesis of the corpus callosum, Microlissencephaly, Periventricular heterotopia, Simplif... OMIM:616212
Insulinoma
Polyphagia, Tremor, Coma, Reduced consciousness/confusion, Fluctuations in consciousness, Lethargy ORPHA:97279
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy OMIM:605711
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology ORPHA:488635
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Drowsiness, Ataxia, Coma, Loss of consciousness, Delirium, Confusion, Lethargy ORPHA:927
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hydrocephalus, Fusion of t... OMIM:617542
Cyclic Vomiting Syndrome
Ataxia, Attention deficit hyperactivity disorder, Lethargy OMIM:500007
Citrullinemia Type I
Torticollis, Ataxia, Coma, Loss of consciousness, Lethargy ORPHA:247525
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, Primary microcephaly, 4-layered lissenceph... ORPHA:89844
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Loss of consciousness, Transient hyperlipidemia, Lethargy ORPHA:156
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Distal Monosomy 10Q
Brachycephaly, Craniosynostosis, Cavum septum pellucidum, Frontal bossing, Prominent metopic ridg... ORPHA:96148
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Lethargy ORPHA:28
Isolated Brachycephaly
Midface retrusion, Brachycephaly ORPHA:35099
Crouzon Disease
Brachycephaly, Frontal bossing, Hydrocephalus, Turricephaly, Midface retrusion, Multiple suture c... ORPHA:207
Cirrhosis, Familial
Lethargy OMIM:215600
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Abnormal cerebral cortex morphology, Ventriculomegaly, Frontal bossing... ORPHA:163961
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly, Agenesis of corpus callosum ORPHA:459074
Combined Oxidative Phosphorylation Deficiency 2
Lethargy OMIM:610498
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Pyruvate Dehydrogenase Deficiency
Gait disturbance, Dystonia, Tremor, Ataxia, Lethargy ORPHA:765
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Lethargy OMIM:614299
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Megalencephaly, Ventriculomegaly, Cavum septum pellucidum, Hydrocephalus, Polymicrogyria OMIM:602501
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Plagiocephaly, Abnormal globus pallidus morphology, Brachycephaly, Ventriculomegaly, Hypoplasia o... OMIM:618603
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral white matter hypoplasia, Dilated fourth ventricle, Leukoencephalopathy, Ventriculomegaly... ORPHA:572798
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Large fontanelles, Brachycephaly, Craniosynostosis, Abnormality of the septum pellucidum, Hydroce... ORPHA:171839
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Ataxia, Lethargy OMIM:201100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria, Abnormal periventricular white matter morphology OMIM:608840
Central Precocious Puberty
Hypothalamic hamartoma, Hydrocephalus, Increased circulating gonadotropin level ORPHA:759
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Hydrocephalus, Turricephaly, Brachycephaly ORPHA:93262
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Gait imbalance, Lethargy OMIM:618120
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:618914
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia, Patent ductus arteriosus OMIM:300049
Typhoid
Tremor, Ataxia, Coma, Lethargy ORPHA:99745
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Muenke Syndrome
Plagiocephaly, Hydrocephalus, Coronal craniosynostosis, Brachycephaly ORPHA:53271
Spinocerebellar Ataxia, X-Linked 3
Dysphagia, Head titubation, Dysmetria, Intention tremor, Lethargy OMIM:301790
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Brachycephaly, Ventriculomegaly OMIM:109120
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Abnormal caudate nucleus morphology, Primary microcephaly, Periventricular l... ORPHA:293725
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Gait disturbance, Ataxia, Lethargy OMIM:615838
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal substantia nigra morph... ORPHA:2822
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Hydrocephalus, Megalencephaly ORPHA:83473
Cole-Carpenter Syndrome 2
Wormian bones, Frontal bossing, Hydrocephalus, Turricephaly, Coronal craniosynostosis, Midface re... OMIM:616294
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration, Microcephaly ORPHA:2204
Carnitine Deficiency, Systemic Primary
Coma, Confusion, Excessive daytime somnolence, Lethargy OMIM:212140
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Brachycephaly ORPHA:178377
Myopathy, Congenital, Bailey-Bloch
Midface retrusion, Brachycephaly, Microcephaly, Ventriculomegaly OMIM:255995
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Isolated Plagiocephaly
Plagiocephaly, Midface retrusion, Frontal bossing ORPHA:35098
Congenital Toxoplasmosis
Cerebral calcification, Hydrocephalus, Microcephaly, Ventriculomegaly ORPHA:858
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Frontal bossing, Hydrocephalus OMIM:613603
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Dila... ORPHA:434179
Kohlschutter-Tonz Syndrome-Like
Midface retrusion, Brachycephaly, Ventriculomegaly, Dilation of lateral ventricles, Secondary mic... OMIM:619229
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Anencephaly, Ventriculomegaly, Hydrocephalus, Type II lissencephaly, C... OMIM:615287
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:183802
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Frontal bossing, Hydrocephalus ORPHA:2181
Thanatophoric Dysplasia
Cloverleaf skull, Ventriculomegaly, Frontal bossing, Hydrocephalus, Midface retrusion ORPHA:2655
Glutaric Acidemia I
Dilation of lateral ventricles OMIM:231670
Susac Syndrome
Gait ataxia, Confusion, Lethargy ORPHA:838
Bainbridge-Ropers Syndrome
Metopic synostosis, Large fontanelles, Trigonocephaly, Scaphocephaly, Dilation of lateral ventric... OMIM:615485
Nasu-Hakola Disease
Cerebral calcification, Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly ORPHA:2770
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Coma, Lethargy ORPHA:289916
Craniosynostosis 2
Brachyturricephaly, Brachycephaly, Trigonocephaly, Craniosynostosis, Frontal bossing, Turricephal... OMIM:604757
Mend Syndrome
Dandy-Walker malformation, Midface retrusion, Hydrocephalus OMIM:300960
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
Carnitine Palmitoyltransferase I Deficiency
Coma, Transient hyperlipidemia, Lethargy OMIM:255120
Multiple Carboxylase Deficiency
Ataxia, Coma, Lethargy ORPHA:148
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Megalencephaly, Thick corpus callosum, Frontal bossing, Pachygyria, Hydrocephalus, Polymicrogyria... OMIM:603387
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Mosaic Trisomy 1
Small anterior fontanelle, Frontal bossing, Polymicrogyria, Dilation of lateral ventricles, Agene... ORPHA:1692
Familial Lambdoid Synostosis
Plagiocephaly, Flat occiput, Hydrocephalus ORPHA:3267
Thanatophoric Dysplasia Type 2
Cloverleaf skull, Holoprosencephaly, Ventriculomegaly, Frontal bossing, Hydrocephalus ORPHA:93274
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Temple Syndrome
Frontal bossing, Hydrocephalus OMIM:616222
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly,... ORPHA:169154
Intellectual Developmental Disorder, X-Linked 1
Secondary microcephaly, Brachycephaly OMIM:309530
Cog5-Cdg
Dilation of lateral ventricles, Cerebral white matter atrophy, Microcephaly, Diffuse cerebral atr... ORPHA:263487
Craniosynostosis And Dental Anomalies
Brachycephaly, Trigonocephaly, Craniosynostosis, Sagittal craniosynostosis, Scaphocephaly, Turric... OMIM:614188
Hemochromatosis Type 2
Lethargy ORPHA:79230
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy, Ataxia, Coma, Episodic ataxia OMIM:311250
1Q44 Microdeletion Syndrome
Ventriculomegaly, Frontal bossing, Hydrocephalus, Prominent metopic ridge, Biparietal narrowing, ... ORPHA:238769
Aicardi-Goutieres Syndrome 9
Diffuse leukoencephalopathy, Cerebral calcification, Basal ganglia calcification, Dilation of lat... OMIM:619487
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Coma, Lethargy ORPHA:79312
Combined Oxidative Phosphorylation Deficiency 52
Lethargy OMIM:619386
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Ventriculomegaly, Frontal bossing, Small pituitary gland, Dilation of lateral ventricles, Hypopla... OMIM:619479
Temple Syndrome
Frontal bossing, Decreased response to growth hormone stimulation test, Hydrocephalus ORPHA:254516
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Plagiocephaly, Hypoplasia of the corpus callosum, Microcephaly, Ventriculomegaly OMIM:618354
Hypomelanosis Of Ito
Gray matter heterotopia, Microcephaly, Cerebral atrophy OMIM:300337
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Megalencephaly, Frontal bossing, Wide anterior fontanel, Hydrocephalus, Midface retrusion, Hypopl... OMIM:616482
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:164180
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cranial asymmetry, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Scaphoceph... OMIM:614886
Craniosynostosis 4
Flat occiput, Lambdoidal craniosynostosis, Anterior plagiocephaly, Frontal bossing, Posterior pla... OMIM:600775
Williams-Beuren Region Duplication Syndrome
Brachycephaly, Ventriculomegaly, Hydrocephalus, Decreased response to growth hormone stimulation ... OMIM:609757
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Coma, Lethargy ORPHA:27
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus, Posterior fossa cyst at the f... OMIM:220219
Dihydropyrimidinase Deficiency
Excessive daytime somnolence, Lethargy OMIM:222748
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Lethargy ORPHA:2089
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus, Abnormal cerebral white matter morphology OMIM:600991
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Loss of consciousness, Coma, Lethargy ORPHA:42
Warburg Micro Syndrome 3
Brachycephaly, Ventriculomegaly, Microcephaly, Polymicrogyria, Secondary microcephaly, Hypoplasia... OMIM:614222
Isovaleric Acidemia
Coma, Lethargy OMIM:243500
Cebalid Syndrome
Plagiocephaly, Brachycephaly, Platystencephaly, Polymicrogyria, Turricephaly, Midface retrusion, ... OMIM:618774
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Brachycephaly OMIM:618859
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Mental Retardation, Autosomal Dominant 35
Hydrocephalus, Ventriculomegaly OMIM:616355
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Brachycephaly, Hydrocephalus, Prominent occiput, Decreased response to... OMIM:220210
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy ORPHA:49827
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Periventricular heterotopia, Pachygyria, Short corpus callosum, Periventri... ORPHA:255138
Gorlin Syndrome
Frontal bossing, Hydrocephalus, Brachycephaly, Cerebral calcification ORPHA:377
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Coma, Opisthotonus, Lethargy OMIM:210200
Holoprosencephaly 7
Flat occiput, Parietal bossing, Frontal bossing, Panhypopituitarism, Hydrocephalus, Alobar holopr... OMIM:610828
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Brachycephaly, Hypoplasia of the corpus callosum, Microcephaly, Cerebral atrophy ORPHA:320385
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Thin calvarium, Microcephaly, Brachycephaly OMIM:122900
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Ataxia, Coma, Lethargy OMIM:237300
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Dandy-Walker malformation, Brachycephaly, Trigonocephaly, Scaphocephaly, Hydrocephalus, Sagittal ... ORPHA:459061
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Absent septum pellucidum, Pachygyr... ORPHA:899
Myxedema
Lethargy OMIM:255900
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Hyperlipidemia, Cerebral calcification, Pachygyria, Renal tubu... ORPHA:157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Polymicrogyria, Type II lissencephaly, Leukoencephalopathy, Hydrocephalus OMIM:615181
Pyruvate Dehydrogenase E3 Deficiency
Ataxia, Lethargy ORPHA:2394
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Hydrocephalus, Anterior hypopituitarism OMIM:241800
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Potocki-Shaffer Syndrome
Turricephaly, Wormian bones, Brachycephaly, Parietal foramina OMIM:601224
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Torticollis, Limb tremor, Exaggerated startle response, Limb dystonia, Oculogyric cris... OMIM:608643
Kleefstra Syndrome 2
Plagiocephaly, Midface retrusion, Microcephaly OMIM:617768
Idiopathic Intracranial Hypertension
Lethargy ORPHA:238624
Krabbe Disease
Hydrocephalus, Increased CSF protein, Diffuse cerebral atrophy OMIM:245200
Holocarboxylase Synthetase Deficiency
Ataxia, Coma, Lethargy ORPHA:79242
Thanatophoric Dysplasia, Type I
Frontal bossing, Hydrocephalus, Cloverleaf skull OMIM:187600
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Microcephaly ORPHA:2772
Scrub Typhus
Tremor, Lethargy, Reduced consciousness/confusion ORPHA:83317
Hyperinsulinism Due To Hnf4A Deficiency
Tremor, Coma, Drowsiness, Lethargy ORPHA:263455
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy OMIM:619064
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Coma, Confusion, Lethargy OMIM:238970
Weiss-Kruszka Syndrome
Colpocephaly, Ventriculomegaly, Prominent metopic ridge, Hypoplasia of the corpus callosum, Agene... OMIM:618619
Autosomal Recessive Non-Syndromic Intellectual Disability
Large basal ganglia, Absent septum pellucidum, Polymicrogyria, Cerebral atrophy, Hypoplasia of th... ORPHA:88616
Maple Syrup Urine Disease
Ataxia, Coma, Lethargy OMIM:248600
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Abnormal periventricular white matter morphology OMIM:615960
Tetrasomy 18P
Abnormality of neuronal migration, Microcephaly ORPHA:3307
Nephronophthisis 18
Hydrocephalus OMIM:615862
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Hypopituitarism, Gray matter heterotopia, Hypoplasia of the ... OMIM:603671
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Agenesis of corpus callosum, Microcephaly, Brachycephaly OMIM:610680
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Hypoplasia of the corpus callosum, Microcephaly, Ventriculomegaly OMIM:300958
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Hydrocephalus, Gray matter heterotopia, Agenesis of corpus callosum OMIM:207950
Edinburgh Malformation Syndrome
Frontal bossing, Hydrocephalus ORPHA:1895
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
6Q25 Microdeletion Syndrome
Plagiocephaly, Agenesis of corpus callosum, Microcephaly, Ventriculomegaly ORPHA:251056
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Abnormal cerebral white matter morphology, Abnormal periventricu... OMIM:618476
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Failure to thrive OMIM:617718
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Microcephaly OMIM:617008
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Microcephaly ORPHA:398189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Partial agenesis of the corpus callosum, Lissencephaly, Pachygyria, Hypoplasia of the corpus call... OMIM:614643
Peho Syndrome
Midface retrusion, Ventriculomegaly, Microcephaly, Porencephalic cyst, Hydrocephalus, Biparietal ... ORPHA:2836
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Ogden Syndrome
Torticollis, Shuffling gait, Excessive daytime somnolence, Lethargy ORPHA:276432
Osteopetrosis, Autosomal Recessive 7
Dilation of lateral ventricles, Hydrocephalus OMIM:612301
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Brachycephaly, Frontal bossing, Wide anterior fontanel, Hydrocephalus, Coronal craniosynostosis, ... OMIM:207410
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology OMIM:615280
Bresek Syndrome
Plagiocephaly, Hydrocephalus, Microcephaly ORPHA:85284
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Frontal bossing, Hydrocephalus OMIM:300863
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Frontal bossing, Hydrocephalus, Polymicrogyria, Ventriculomegaly ORPHA:60040
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... OMIM:308240
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Patent ductus arteriosus, Absent s... ORPHA:35107
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypoplasia of the corpus callosum, Patent ductus arteriosus, Periventricular heterotopia OMIM:618974
Methylcobalamin Deficiency Type Cble
Drowsiness, Loss of consciousness, Excessive daytime somnolence, Lethargy ORPHA:2169
Apert Syndrome
Brachyturricephaly, Cloverleaf skull, Large fontanelles, Acrobrachycephaly, Absent septum pelluci... ORPHA:87
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Polymicrogyria, Hydrocephalus, G... ORPHA:370959
Linear Nevus Sebaceus Syndrome
Dandy-Walker malformation, Plagiocephaly, Ventriculomegaly, Frontal bossing, Biparietal narrowing... ORPHA:2612
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Microcephaly, Abnormal cerebral white matter morphology OMIM:300957
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Choroid plexus cyst, Decreased calvarial ossification, Ventriculomegaly, Hydrocephalus, Dolichoce... OMIM:617866
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Microcephaly OMIM:300558
Prader-Willi Syndrome Due To Translocation
Flat occiput, Anterior pituitary hypoplasia, Dilation of lateral ventricles, Decreased response t... ORPHA:177907
Weaver Syndrome
Dilation of lateral ventricles, Absent septum pellucidum OMIM:277590
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Dilation of lateral ventricles, Pachygyria, Brachycephaly OMIM:263520
Alkuraya-Kucinskas Syndrome
Plagiocephaly, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Lissen... OMIM:617822
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Polymicrogyria, Cerebral calcification, Gray matter heterotopia, Microc... OMIM:617397
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Hyperlipidemia, Cerebral calcification, Pachygyria, Renal tubu... ORPHA:228308
Mental Retardation, Buenos Aires Type
Partial agenesis of the corpus callosum, Hydrocephalus, Microcephaly OMIM:249630
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Plagiocephaly, Brachycephaly, Thick corpus callosum, Prominent occiput, Dolichocephaly, Hypoplasi... OMIM:618672
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Weight loss, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia ORPHA:514
Infantile Sialic Acid Storage Disease
Hydrocephalus, Cerebral atrophy OMIM:269920
Medulloblastoma
Cerebellar ataxia associated with quadrupedal gait, Dysmetria, Intention tremor, Progressive cere... ORPHA:616
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy OMIM:614857
Aase-Smith Syndrome I
Dandy-Walker malformation, Hydrocephalus OMIM:147800
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Coma, Lethargy OMIM:201450
Meningococcal Meningitis
Lethargy, Drowsiness, Reduced consciousness/confusion ORPHA:33475
Meckel Syndrome, Type 4
Dandy-Walker malformation, Meningocele, Anencephaly, Hydrocephalus, Hypoplasia of the corpus call... OMIM:611134
Evans Syndrome
Lethargy ORPHA:1959
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Hydroceph... ORPHA:1647
Cole-Carpenter Syndrome
Communicating hydrocephalus, Wormian bones, Frontal bossing, Turricephaly, Midface retrusion ORPHA:2050
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Lissencephaly, Progressive microcephaly, Hydrocephalus, Agyria, Type II lissencephaly, Agenesis o... OMIM:615249
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Coma, Lethargy OMIM:251000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus, Polymicrogyria, Agyria, Cerebral calcification, Hypoplasia of th... OMIM:616538
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Plagiocephaly, Microcephaly, Abnormal cerebral white matter morphology, Hypoplasia of the corpus ... OMIM:617481
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Apert Syndrome
Brachyturricephaly, Megalencephaly, Large fontanelles, Midface retrusion, Acrobrachycephaly, Abse... OMIM:101200
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Functioning Gonadotropic Adenoma
Abnormal prolactin level, Adrenocorticotropic hormone deficiency, Pituitary hypothyroidism, Incre... ORPHA:91348
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Dandy-Walker malformation, Skull asymmetry, Hydrocephalus, Lissencephaly, Microcephaly OMIM:612938
Propionic Acidemia
Dystonia, Coma, Lethargy OMIM:606054
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Ataxia, Lethargy OMIM:618321