Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
unc-51-like kinase 4
Synonyms:
4932415A06Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ulk4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ulk4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... OMIM:620315
Microcephaly 19, Primary, Autosomal Recessive
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Failure to thrive in infancy, Hyp... OMIM:617800
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Abnormal temper tantrums, Lateral ventricle dilatation, Hypo... ORPHA:300573
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocepha... OMIM:307000
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Ventriculomegaly, Reduced cerebral white matter volume, Hypoplasia of the brainstem, Hypoplasia o... OMIM:615763
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Thick corpus callosum, Megalencephaly OMIM:615938
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Ventriculomegaly, Abnormal cerebral cortex morphology, Microcephaly, Abnor... ORPHA:329228
Porencephaly
Ventriculomegaly, Porencephalic cyst ORPHA:2940
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... OMIM:600348
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Holopr... ORPHA:2182
Spastic Paraplegia 88, Autosomal Dominant
Attention deficit hyperactivity disorder, Ventriculomegaly, Thin corpus callosum, Hypoplasia of t... OMIM:620106
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly, Cerebral atrophy OMIM:612900
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Attention deficit hyperactiv... OMIM:618709
Megalencephaly, Autosomal Dominant
Hydrocephalus, Megalencephaly OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hypoplasia of the corpus callosum, Hydrocep... OMIM:615937
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Absent central microtubular pai... OMIM:620032
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Abnormal temper tantrums, Ventriculomegaly, Gastroesophageal reflux, Dilated third ventricle, Fai... ORPHA:500055
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Bronchiectasis... ORPHA:922
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Anal atresia, Hydrocephalus, Stillbirth OMIM:276950
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, ... OMIM:604213
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
L1 Syndrome
Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus ORPHA:275543
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Decreased body weight, Microceph... OMIM:619420
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly, Primary microcephaly, Short stature, Growth delay, Lis... OMIM:614019
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Hypoplasia of the corpus c... OMIM:618677
Ciliary Dyskinesia, Primary, 6
Abnormal respiratory motile cilium morphology, Absent/shortened outer dynein arms, Recurrent sinu... OMIM:610852
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Ventriculomegaly, Cerebral atrophy, Diffuse swelling of cereb... OMIM:613925
Polymicrogyria, Bilateral Temporooccipital
Aggressive behavior, Ventriculomegaly, Polymicrogyria OMIM:612691
Unilateral Hemispheric Polymicrogyria
Cortical dysplasia, Cerebral hypoplasia, Thick cerebral cortex, Lateral ventricle dilatation ORPHA:101071
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Compulsi... ORPHA:500166
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology, Chronic sinusitis, Chronic otitis media, Recurrent... OMIM:612518
Lissencephaly 1
Ventriculomegaly, Hypoplasia of the brainstem, Secondary microcephaly, Abnormal cerebral white ma... OMIM:607432
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Age... OMIM:619244
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Chronic sinusitis, Chronic... OMIM:614679
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Ventriculomegaly, Cerebral atrophy, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of th... OMIM:618730
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus ca... OMIM:608716
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the brainstem,... OMIM:618266
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Ventriculomegaly, Recurrent hand flapping, Hypoplasia of the corpus ca... OMIM:617862
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Subcortical cerebral atrophy, Hydroceph... ORPHA:2703
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Gastroesophageal reflux, Basal ganglia necrosis, Lateral ventricle dilatation, ... ORPHA:79243
Pettigrew Syndrome
Self-injurious behavior, Ventriculomegaly, Basal ganglia calcification, Cerebral calcification, S... OMIM:304340
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Ventriculomegaly, Intraventricular hemorrhage ORPHA:401986
Ciliary Dyskinesia, Primary, 16
Chronic sinusitis, Chronic rhinitis, Pulmonary insufficiency, Chronic otitis media, Bronchiectasi... OMIM:614017
Combined Oxidative Phosphorylation Deficiency 25
Low-set ears, Ventriculomegaly, Aspiration pneumonia, Sensorineural hearing impairment, Intravent... OMIM:616430
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Absent respiratory c... OMIM:616481
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Diffuse cerebral atrophy, Microcephaly, Tongue thrusting, Corpus ca... ORPHA:77299
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle, Abnormal periventricula... OMIM:613443
Microcephaly, Seizures, And Developmental Delay
Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly, Progressive microcephaly, Hype... OMIM:613402
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Recurrent sinusitis, Rhini... OMIM:615505
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Chronic sinusitis, Chr... OMIM:612650
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Neuronal loss in basal ganglia, Hypoplasia of the pons, Lateral ventri... OMIM:607596
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Aqueductal stenosis, Intrauterine growth retardation, Cerebral calcification ORPHA:3035
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Bronchiectasis, Recurren... OMIM:617091
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Microceph... ORPHA:3207
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Microlissencephaly
Lissencephaly, Cerebral cortical atrophy, Ventriculomegaly, Polymicrogyria, Neuronal loss in the ... ORPHA:1083
Bowen-Conradi Syndrome
Ventriculomegaly, Severe postnatal growth retardation, Microcephaly, Severe intrauterine growth r... ORPHA:1270
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Microcephaly, Agenesis of corpus callosum ORPHA:1496
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Bronchiectasis, Recurr... OMIM:612649
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Abnormal periventricular white matter morphology, Microcephaly, Attentio... OMIM:619725
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Ventriculomegaly, Reduced cerebral white matter volume, Hippocampal atrophy, Aggress... OMIM:301107
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Macrocephaly, Acquired, With Impaired Intellectual Development
Ventriculomegaly, Probst bundles, Agenesis of corpus callosum, Aggressive behavior, Attention def... OMIM:618286
Ciliary Dyskinesia, Primary, 7
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Recurrent otitis... OMIM:611884
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Ciliary Dyskinesia, Primary, 50
Absent inner dynein arms, Short sperm flagella, Chronic sinusitis, Coiled sperm flagella OMIM:620356
Ciliary Dyskinesia, Primary, 1
Pneumonia, Nasal polyposis, Conductive hearing impairment, Communicating hydrocephalus, Chronic s... OMIM:244400
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Bronchiectasis... OMIM:618699
Asparagine Synthetase Deficiency
Ventriculomegaly, Dilated third ventricle, Gastroesophageal reflux, Failure to thrive, Hypoplasia... OMIM:615574
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Progressive leukoencephalopathy, Lateral ventricle dilatation, Periventricul... OMIM:615889
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Diffuse white matter abnormalities, Gastroesophageal reflux, Growth dela... ORPHA:208447
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis OMIM:242670
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Micrognathia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Galloway-Mowat Syndrome
Pachygyria, Intrauterine growth retardation, Hiatus hernia, Microcephaly, Short stature, Aqueduct... ORPHA:2065
Masa Syndrome
Short stature, Ventriculomegaly, Agenesis of corpus callosum ORPHA:2466
Olivopontocerebellar Atrophy-Deafness Syndrome
Cerebral cortical atrophy, Ventriculomegaly ORPHA:2732
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Ventriculomegaly, Agyria, Enlarged sylvian cistern ORPHA:1084
Bonnemann-Meinecke-Reich Syndrome
Ventriculomegaly, Decreased response to growth hormone stimulation test, Cerebral calcification, ... ORPHA:1261
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Self-injurious behavior, Dilated third ventricle, Lateral ventricle dilatation, Periventricular c... ORPHA:544488
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Cerebral cortical atrophy, Lateral ventricle dilatation, Periventricular cysts, Microcephaly, Abn... OMIM:617668
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Ventriculomegaly, Primary microcephaly, Agenesis of corpus callosum ORPHA:171703
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Inappropriate behavior, Lateral ventricle dilatation, Cerebral atrophy, Basa... OMIM:221770
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Recurrent sinusitis, Absent inner dynein arms, Bronchiectasis, Absent out... OMIM:613193
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal corpus callosum morphology, Ventriculomegaly, Failure to thrive, Cerebral atrophy, Incre... ORPHA:255182
Ciliary Dyskinesia, Primary, 40
Azoospermia, Congenitally corrected transposition of the great arteries, Right aortic arch, Chron... OMIM:618300
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation, Bruxism, Microcephaly, Thin corpus callosum, Growth delay, Cleft pa... OMIM:615716
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Alg2-Cdg
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensity of ... ORPHA:79326
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Otitis media, Ch... OMIM:613807
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Hematochezia, Self-injurious behavior, Dilated third ventricle, Head-banging... OMIM:619575
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Ventriculomegaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Microcephaly, P... OMIM:616486
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Microcephaly, Thin corpus callosum, Partial agenesis of the corpus ... OMIM:619517
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Periodontitis, Hearing impairment ORPHA:1008
Microcephaly 17, Primary, Autosomal Recessive
Ventriculomegaly, Failure to thrive, Hypoplasia of the brainstem, Hypoplasia of the corpus callos... OMIM:617090
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Nasal polyposis,... OMIM:613808
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Failure to thrive in infancy, Intrauterine growth retardation, Hypo... ORPHA:284417
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Obesity, Partial agenesi... OMIM:617296
Pontocerebellar Hypoplasia, Type 13
Volvulus, Failure to thrive, Lateral ventricle dilatation, Hypoplasia of the pons, Hypoplasia of ... OMIM:618606
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hypoplasia of the pons, ... OMIM:613154
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Ventriculomegaly, Dilated third ventricle, Gastroesophageal ... ORPHA:397715
Cerebrooculofacioskeletal Syndrome 3
Ventriculomegaly, Intrauterine growth retardation, Agenesis of corpus callosum, Microcephaly, Cle... OMIM:616570
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Lateral ventricle dilatation ORPHA:306669
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Low-set ears, Ventriculomegaly, Microretrognathia, Hypoplasia of the zygomatic bone, Intraventric... OMIM:613603
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Failure to thrive in i... ORPHA:488627
Ventriculomegaly And Arthrogryposis
Ventriculomegaly, Agenesis of corpus callosum OMIM:619501
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Self-injurious behavior, Ventriculomegaly, Slender build, Aggressive behavior, Frontal cortical a... OMIM:300699
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Cach Syndrome
Growth delay, Lateral ventricle dilatation, Cerebral atrophy, Intrauterine growth retardation, Dy... ORPHA:135
Neurooculorenal Syndrome
Ectopic posterior pituitary, Ventriculomegaly, Hypoplasia of the pons, Anteriorly placed anus, Po... OMIM:620305
Microcephaly-Micromelia Syndrome
Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retardation, Neonatal death, Micro... OMIM:251230
Lissencephaly 3
Ventriculomegaly, Hypoplasia of the brainstem, Polymicrogyria, Hypoplasia of the corpus callosum,... OMIM:611603
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Absent septum pellucidum, Microcephaly, Hydrocephalus... OMIM:619895
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Short stature OMIM:303350
Brain Small Vessel Disease 2
Ventriculomegaly, Intracranial hemorrhage OMIM:614483
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:618890
Ciliary Dyskinesia, Primary, 18
Recurrent otitis media, Recurrent sinusitis, Absent inner dynein arms, Rhinitis, Absent outer dyn... OMIM:614874
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Conductive hearing impairment, Chronic sinusitis, Absent inner and outer dynein a... OMIM:618063
Pfeiffer Syndrome Type 2
Intestinal malrotation, Hydrocephalus, High palate, Aqueductal stenosis, Anal atresia, Cleft palate ORPHA:93259
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, ... OMIM:618736
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Lateral ventricle dilatation OMIM:618330
Yoon-Bellen Neurodevelopmental Syndrome
Ventriculomegaly, Failure to thrive, Cerebral atrophy, Periventricular leukomalacia, Hypoplasia o... OMIM:619701
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Hypoplasia of the corpus callosum, Aganglionic megacolon, Microcephaly, Hydroce... OMIM:304100
Developmental And Epileptic Encephalopathy 97
Ventriculomegaly, Stereotypical hand wringing OMIM:619561
Congenital Disorder Of Glycosylation, Type Iiy
Cerebral cortical atrophy, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Atrophy/D... OMIM:620200
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Periventricular white matter hyperintensities, Aggressive behavior, Microcephaly, Hydrocephalus, ... OMIM:619470
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Recurrent sinusitis, Rhinitis, Bronchiectasis, Absent outer dynein arms OMIM:615500
Intellectual Developmental Disorder, Autosomal Dominant 48
Lateral ventricle dilatation, Hypoplasia of the brainstem, Polymicrogyria, Intrauterine growth re... OMIM:617751
Atypical Teratoid Rhabdoid Tumor
Cerebral calcification, Hydrocephalus ORPHA:99966
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Failure to thrive, Hypoplasia of the pons, Partial agenesis of the corpu... OMIM:619512
Dural Sinus Malformation
Myelopathy, Abnormal facial vein morphology, Subdural hemorrhage, Stroke, Subarachnoid hemorrhage... ORPHA:97339
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Ventriculomegaly, Cerebral calcification, Microcephaly ORPHA:1980
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cerebral cortical atrophy, Ventriculomegaly ORPHA:1568
Alexander Disease
Self-injurious behavior, Failure to thrive, Cerebral calcification, Agenesis of corpus callosum, ... ORPHA:58
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Posterior fossa cyst at the fourth ventricle OMIM:220200
Intellectual Developmental Disorder, Autosomal Dominant 56
Gastroesophageal reflux, Lateral ventricle dilatation, Secondary microcephaly, Pontocerebellar at... OMIM:617854
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calc... OMIM:620371
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Hyperglycorrhachia, Congestive heart failure, Increased CSF lactate, Hypopituitarism, ... ORPHA:90065
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Elongated superior cerebellar ped... OMIM:608629
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Multiple Mitochondrial Dysfunctions Syndrome 5
Pachygyria, Microcephaly, Ventriculomegaly, Growth delay OMIM:617613
Epilepsy, Progressive Myoclonic, 9
Simplified gyral pattern, Ventriculomegaly, Microglossia, Agenesis of corpus callosum OMIM:616540
Slc35A2-Cdg
Abnormal midbrain morphology, Gastroesophageal reflux, Lateral ventricle dilatation, Cerebral atr... ORPHA:356961
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Bronchiectasis, Chronic rhinitis OMIM:618801
Alexander Disease Type I
Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Cachexia, Abnormal cerebral white ... ORPHA:363717
Leukoencephalopathy With Vanishing White Matter 4
Leukoencephalopathy, Cerebral cortical atrophy, Ventriculomegaly, Corpus callosum atrophy OMIM:620314
Pfeiffer Syndrome Type 1
Aqueductal stenosis, High palate ORPHA:93258
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Ventriculomegaly, Inappropriate laughter OMIM:619323
Primary Ciliary Dyskinesia
Ventriculomegaly, Bronchiectasis, Conductive hearing impairment, Hearing impairment, Nasal polypo... ORPHA:244
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Low-set ears, Dilated cardiomyopathy, Retrognathia, Moyamoya phenomenon, Decreased response to gr... ORPHA:280679
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ventricle dilatation, Sub... OMIM:618291
1Q21.1 Microduplication Syndrome
Attention deficit hyperactivity disorder, Gastroesophageal reflux, Hydrocephalus, Failure to thrive ORPHA:250994
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Ventriculomegaly OMIM:618383
Intellectual Developmental Disorder, Autosomal Recessive 46
Self-injurious behavior, Ventriculomegaly, Large for gestational age, Aggressive behavior, Short ... OMIM:616116
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Intrauterine growth retardation ORPHA:1788
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lateral ventricle dilatation, Neurofibrillary tangles, Lewy bodies, Di... OMIM:607485
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Ventriculomegaly, Failure to thrive, Decreased response to growth hormone stimulation test, Agene... OMIM:615286
Fried Syndrome
Aggressive behavior, High palate, Cerebral calcification, Hydrocephalus ORPHA:85335
Vacterl With Hydrocephalus
Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Sp... ORPHA:3412
Paganini-Miozzo Syndrome
Low-set ears, Mandibular prognathia, Lateral ventricle dilatation, Malar flattening, Posteriorly ... OMIM:301025
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Small for gestational age, Lateral ventricle dilatation OMIM:619278
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Secondary microcephaly, Abnormal caudate nucleus morphology, Hypopl... ORPHA:2148
Pfeiffer Syndrome Type 3
Intestinal malrotation, High palate, Aqueductal stenosis, Anal atresia, Cleft palate ORPHA:93260
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Skin rash ORPHA:26
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Inflammation of the large intestine, Delayed onset bleeding, Prolon... ORPHA:331
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callo... ORPHA:250972
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Severe X-Linked Intellectual Disability, Gustavson Type
Lateral ventricle dilatation, Dilated fourth ventricle, Severe postnatal growth retardation, Micr... ORPHA:3078
Glutamine Deficiency, Congenital
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Neonatal death, Decreased CSF gl... OMIM:610015
Simpson-Golabi-Behmel Syndrome, Type 2
Ventriculomegaly, Obesity, High palate OMIM:300209
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Increased CSF protein concentration, Ventriculomegaly, Cerebral dysmyelination, Hyperintensity of... OMIM:611722
Congenital Hydrocephalus
Small cerebral cortex, Ventriculomegaly, Abnormal cortical gyration, Colpocephaly, Hydrocephalus,... ORPHA:2185
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Agenesis of corpus c... ORPHA:85179
Lissencephaly Due To Tuba1A Mutation
Ventriculomegaly, Dysgenesis of the basal ganglia, Hypoplasia of the brainstem, Polymicrogyria, D... ORPHA:171680
Intellectual Developmental Disorder, Autosomal Dominant 39
Cerebral atrophy, Obesity, Self-mutilation, Polyphagia, Aggressive behavior, Hydrocephalus, Thin ... OMIM:616521
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he... OMIM:618433
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Fur... ORPHA:464738
Mehmo Syndrome
Ventriculomegaly, Decreased response to growth hormone stimulation test, Obesity, Hypoplasia of t... OMIM:300148
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Ventriculomegaly, Intrauterine growth retardation, Microcephaly, Short stature ORPHA:2515
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the brainstem, Hypoplasia of the co... ORPHA:420179
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spina bifida occulta, Da... OMIM:616602
Combined Oxidative Phosphorylation Defect Type 39
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Cerebral atrophy, Increased CS... ORPHA:565624
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Cerebral atrophy, Microcephaly, Primary microcephaly, Short stature... OMIM:619847
Aicardi Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Polymicrogyria, Postnatal growth retardati... OMIM:304050
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Lateral ventricle dilatation, Cardiomyopathy, Micrognathia, Elevated CSF D-... OMIM:600721
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis, Absent outer dynein arms OMIM:616037
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Neonatal death OMIM:614870
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation OMIM:602200
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Nasal polyposis, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, ... OMIM:617092
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Abnormal thalamus morphology, Hypoplasia of the brainstem, Type II ... ORPHA:300570
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ventriculomegaly, Bruxism, Inappropriate laughter, Aggressive behavior, Microcephaly, Motor stere... OMIM:619150
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Bradycardia, Petechiae, Cerebral hemorrhage, Pate... OMIM:617397
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Self-injurious behavior, Reduced cerebral white matter volume, Lateral ventricle dilatation, Pari... OMIM:620075
Ciliary Dyskinesia, Primary, 2
Absent inner and outer dynein arms, Nasal polyposis, Hearing impairment, Otitis media, Sinusitis,... OMIM:606763
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Microcephaly, Hydrocephalus OMIM:614219
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Growth delay, Lateral ventricle dilatation ORPHA:85290
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Abnormal lateral ventricle morphology, Growth delay, Hypoplasia ... ORPHA:488635
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, Ventriculomegaly, Reduced cerebral white matter volume, Cerebral atrophy, Po... OMIM:620156
Hsd10 Disease
Ventriculomegaly, Frontotemporal cerebral atrophy, Postnatal growth retardation, Focal white matt... ORPHA:391417
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosum, Hydrocephalus, ... OMIM:619301
3-Hydroxyisobutyric Aciduria
Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Intrauter... ORPHA:939
Catel-Manzke Syndrome
Ventriculomegaly, Failure to thrive, Short stature, Glossoptosis, Cleft palate ORPHA:1388
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Otitis media, Recurrent bacterial upper respiratory tract infections, Sinusiti... ORPHA:70593
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
Macdermot-Winter Syndrome
Intrauterine growth retardation, Ventriculomegaly, Microcephaly OMIM:247990
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Agenesis of corpus callosum, Hydrocephalus, Partial agenesis of the ... OMIM:619302
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Lateral ventricle dilatation, Anteriorly placed anus, Probst bundles, Intrau... OMIM:612863
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Ventriculomegaly, Gastroesophageal reflux, Intrauterine growth retardation, Hypoplasia of the cor... ORPHA:1495
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
Hydrolethalus Syndrome 2
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Molar tooth sign on MRI, Anencephal... OMIM:614120
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
High-frequency hearing impairment, Otitis media, Chronic sinusitis OMIM:300455
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Absent inner and outer dynein arms,... OMIM:614935
Autosomal Recessive Primary Microcephaly
Ventriculomegaly, Pachygyria, Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Micro... ORPHA:2512
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis, Rhinitis, Bronchiectasis OMIM:615504
Developmental And Epileptic Encephalopathy 36
Low-set ears, Microretrognathia, Abnormal bleeding, Hydrocephalus OMIM:300884
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Ventriculomegaly, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia... ORPHA:572798
Autosomal Recessive Spastic Paraplegia Type 53
Microcephaly, Ventriculomegaly, Cortical dysplasia, Failure to thrive ORPHA:319199
Temple Syndrome
Bifid uvula, Decreased response to growth hormone stimulation test, Postnatal growth retardation,... ORPHA:254516
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, High palate, Thin ... OMIM:614105
Combined Immunodeficiency, X-Linked
Pneumonia, Otitis media, Sinusitis OMIM:312863
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Dysgyria, Abnormal c... ORPHA:352682
Lissencephaly 5
Leukoencephalopathy, Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly,... OMIM:615191
Familial Scaphocephaly Syndrome, Mcgillivray Type
Ventriculomegaly, High palate ORPHA:168624
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Cerebral hypoplasia, Ventriculomegaly, Reduced cerebral white matter volume, Hypoplasia of the co... OMIM:617977
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Aggress... OMIM:618914
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Low-set ears, Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature c... OMIM:300845
Spastic Paraplegia 47, Autosomal Recessive
Ventriculomegaly, Abnormal periventricular white matter morphology, Hypoplasia of the corpus call... OMIM:614066
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sinusitis, Telangiecta... ORPHA:420741
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology OMIM:215520
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Pyruvate Dehydrogenase E1-Beta Deficiency
Ventriculomegaly, Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Periventricular cy... ORPHA:255138
Developmental And Epileptic Encephalopathy 59
Self-injurious behavior, Ventriculomegaly OMIM:617904
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Cerebral atrophy, Abnormal cerebral white matter morphology, Atrophy/Deg... ORPHA:314404
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Aggressive behavior, Micro... ORPHA:500180
Leukoencephalopathy, Cystic, Without Megalencephaly
Leukoencephalopathy, Ventriculomegaly, Cerebral calcification, Focal white matter lesions, Microc... OMIM:612951
Kleeblattschaedel
Hydrocephalus OMIM:148800
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Abnormal temper tantrums, Lateral ventricle dilatation, Subm... ORPHA:457279
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Failure to thrive, Cerebral atrophy, Increased CSF lactate, Intrauterine growth... OMIM:616034
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Cerebral cortical atrophy, Lateral ventricle dilatation, Abnormal substanti... ORPHA:2822
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra... ORPHA:136
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus ORPHA:73256
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Ventriculomegaly, Gastroesophageal reflux, Failure to thrive, Hypoplasia of the corpus callosum, ... OMIM:618603
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent upper respiratory tract infe... ORPHA:277
X-Linked Intellectual Disability, Cantagrel Type
Cerebral cortical atrophy, Ventriculomegaly, Gastroesophageal reflux, Hypoplasia of the corpus ca... ORPHA:85277
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Reduced cerebral white matter volume, Hypoplasia of the brainstem, Secondary microcephaly, Pachyg... OMIM:618174
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Short stature, High palate, Lateral ventricle dilatation OMIM:619995
Neurodevelopmental Disorder With Involuntary Movements
Self-injurious behavior, Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, M... OMIM:617493
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus, ... OMIM:218350
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Absent inner and outer dynein arms,... OMIM:615444
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Hearing impairment, Abnormal cerebral v... ORPHA:53719
Nasu-Hakola Disease
Cerebral cortical atrophy, Ventriculomegaly, Functional abnormality of the gastrointestinal tract... ORPHA:2770
Tubulinopathy-Associated Dysgyria
Abnormal corpus callosum morphology, Ventriculomegaly, Abnormality of the internal capsule, Abnor... ORPHA:467166
Gómez-López-Hernández Syndrome
Short stature, Abnormal brainstem morphology, Hydrocephalus ORPHA:1532
Orofaciodigital Syndrome Xv
Ventriculomegaly, Agenesis of corpus callosum, Molar tooth sign on MRI, Lobulated tongue OMIM:617127
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Hydrocephalus, Cleft palate OMIM:258320
Trisomy 5P
Short stature, Ventriculomegaly, Obesity ORPHA:1742
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Febrile Infection-Related Epilepsy Syndrome
Sinusitis ORPHA:163703
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Small for gestational age, Periventricular leukomalacia, Hydrocephalus OMIM:618302
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Celiac disease, Hydrocephalus, Megalencephaly, Thick corpus callosum OMIM:248000
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Ventriculomegaly, Hypoplasia of the brainstem, Thick corpus callosum, Short stature, Simplified g... OMIM:618273
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele, Hydrocephalus, ... ORPHA:1931
Pontocerebellar Hypoplasia Type 2
Ventriculomegaly, Gastroesophageal reflux, Abnormal cortical gyration, Oral-pharyngeal dysphagia,... ORPHA:2524
Isolated Agammaglobulinemia
Pneumonia, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality of the eye, Re... ORPHA:229717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Lissencephaly, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lis... OMIM:613153
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Cerebral atrophy, Intrauterine growth retardation, Cerebral calcification, CSF ... OMIM:610333
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation, Failure to thrive OMIM:231670
Peho-Like Syndrome
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Progressive microcephaly, Pa... OMIM:617507
Koolen-De Vries Syndrome Due To A Point Mutation
Ventriculomegaly, Eczematoid dermatitis, Hearing impairment, Cardiomyopathy, Recurrent otitis med... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Ventriculomegaly, Eczematoid dermatitis, Hearing impairment, Cardiomyopathy, Recurrent otitis med... ORPHA:363958
Congenital Toxoplasmosis
Ventriculomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Cerebral calcifi... ORPHA:858
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Gastroesophageal reflux, Lateral ventricle dilatation, Secondary microcephaly, ... OMIM:619229
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Ventriculomegaly, Cerebral atrophy, Polymicrogyria, Bruxism, Inappropria... OMIM:614254
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Frontal encephalocele, Septo-optic dysp... ORPHA:1528
Bilateral Frontoparietal Polymicrogyria
Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Microcephaly, Cortical dys... ORPHA:101070
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Ventriculomegaly, Temporal cortical atrophy, Attention deficit hyperactivity disorder, Frontal co... ORPHA:137831
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Abnormal cerebral cortex morphology, Meckel diverticulum, Abnormal brainstem mo... ORPHA:163961
Biemond Syndrome Type 2
Short stature, Obesity, Delayed puberty, Hydrocephalus ORPHA:141333
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology OMIM:225050
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Obesity, Hydrocephalus, Short stature ORPHA:2183
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Activated Pi3K-Delta Syndrome
Pneumonia, Hearing impairment, Recurrent otitis media, Chronic sinusitis, Arthritis, Bronchiectas... ORPHA:397596
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Lateral ventricle dilatation, Cerebral atrophy, Failure to thrive in infancy, Postnat... OMIM:611209
Cog5-Cdg
Lateral ventricle dilatation, Intrauterine growth retardation, Diffuse cerebral atrophy, Cerebral... ORPHA:263487
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Joubert Syndrome 31
Ventriculomegaly, Hypoplasia of the corpus callosum, Molar tooth sign on MRI OMIM:617761
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Stomatitis, Skin rash ORPHA:79284
Cardiomyopathy, Familial Restrictive, 1
Ventriculomegaly OMIM:115210
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Failure to thrive, Decreased response to growth hormone stimulation test, Hypop... OMIM:609757
Pontocerebellar Hypoplasia, Type 9
Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the pons, Secondary microcephaly, Peri... OMIM:615809
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Chronic sinusitis OMIM:613502
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Dilated fourth ventricle, Right aortic arch, Chronic sinusitis, Persistent l... OMIM:620642
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Aggressive behavior, Microcephaly, Hyperacti... ORPHA:457260
Intellectual Developmental Disorder, X-Linked 30
Aggressive behavior, Microcephaly, Hydrocephalus, Hyperactivity, Short stature, High palate, Rest... OMIM:300558
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Christianson Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Gastroesophageal reflux, Aplasia/Hypoplasia of the c... ORPHA:85278
Mitochondrial Complex I Deficiency, Nuclear Type 31
Ventriculomegaly, Failure to thrive OMIM:618251
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Cerebral cortical atrophy, Ventriculomegaly, Gastroesophageal reflux, Pe... ORPHA:485350
Distal Deletion 10Q
Lateral ventricle dilatation, Failure to thrive, Cavum septum pellucidum, Postnatal growth retard... ORPHA:96148
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Ventriculomegaly, Hypoplasia of the corpus callosum, Decreased body weight, Aggressi... OMIM:300958
Acrofacial Dysostosis 1, Nager Type
Velopharyngeal insufficiency, Polymicrogyria, Aganglionic megacolon, Microcephaly, Hydrocephalus,... OMIM:154400
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Distal 7Q11.23 Microduplication Syndrome
Aortic aneurysm, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele ORPHA:261102
Neurocutaneous Melanocytosis
Ventriculomegaly, Infectious encephalitis, Meningocele, Intracranial hemorrhage, Dandy-Walker mal... ORPHA:2481
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Diffuse cerebral atrophy, Cerebral cortical atrophy, Ventriculomegaly OMIM:615362
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Microcephaly, Ventriculomegaly, Cerebral atrophy OMIM:617051
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, Chroni... ORPHA:33110
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Perisylvian polymicrogyria, Ventriculomegaly, Absent uvula OMIM:616531
Developmental And Epileptic Encephalopathy 9
Attention deficit hyperactivity disorder, Aggressive behavior, Ventriculomegaly OMIM:300088
Dandy-Walker Malformation With Postaxial Polydactyly
Low-set ears, Aortic valve stenosis, Microretrognathia, Dilated fourth ventricle, Hydrocephalus, ... OMIM:220220
Mhc Class I Deficiency 1
Nasal polyposis, Bronchiectasis, Chronic otitis media, Chronic sinusitis OMIM:604571
6Q25 Microdeletion Syndrome
Ventriculomegaly, Failure to thrive, Agenesis of corpus callosum, Microcephaly, Short stature, Hi... ORPHA:251056
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal pyramidal tract morphology, Lateral ventricle dilatation OMIM:256850
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Ventriculomegaly, Gastroesophageal reflux, Failure to thrive, Intrauteri... OMIM:619833
Microhydranencephaly
Ventriculomegaly, Hydranencephaly, Hypoplasia of the brainstem, Pachygyria, Self-mutilation, Agen... OMIM:605013
Moyamoya Disease
Ventriculomegaly ORPHA:2573
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Microcephaly, Hydroc... OMIM:615599
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Ventriculomegaly, Obesity, Hypoplasia of the corpus callosum ORPHA:521390
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Fusion of the left and right thalami, Midline brainstem cleft, Agenesis o... OMIM:617542
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Open operculum, Hamartoma of tongue, Dilated fourth ventricle, Hypoplasi... ORPHA:434179
Developmental And Epileptic Encephalopathy 70
Cerebral cortical atrophy, Ventriculomegaly, Microcephaly OMIM:618298
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Ventriculomegaly, Cerebral atrophy, Microcephaly, Thin corpus callosum OMIM:619851
Juvenile Huntington Disease
Ventriculomegaly, Neuronal loss in basal ganglia, Weight loss, Abnormal cerebral white matter mor... ORPHA:248111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Microcephaly, Ventriculomegaly, Hypoplasia of the pons OMIM:613151
Developmental And Epileptic Encephalopathy 54
Microcephaly, Ventriculomegaly OMIM:617391
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Fragile X Syndrome
Otitis media, Protruding ear, Sinusitis, Mandibular prognathia, Chronic otitis media, Macrotia, A... ORPHA:908
17P13.3 Microduplication Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, High palate ORPHA:217385
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Hypoplasia of the brainstem, Polymicrogyria, Intrauterine grow... OMIM:225790
Sneddon Syndrome
Stroke, Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Leukoencephalopathy, Bifid uvula, Ventriculomegaly, Cerebral atrophy, Dilated fourth ventricle, I... OMIM:620428
Bainbridge-Ropers Syndrome
Self-injurious behavior, Gastroesophageal reflux, Growth delay, Lateral ventricle dilatation, Fai... OMIM:615485
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Stroke, Sinusitis, Intra... ORPHA:1163
Pontocerebellar Hypoplasia, Type 16
Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the pons, Thin corpus callosum, Dysphagia OMIM:619527
Charge Syndrome
Gastroesophageal reflux, Postnatal growth retardation, Intrauterine growth retardation, Microceph... ORPHA:138
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Reduced cerebral white matter volume, Failure to thrive, Secondary microcephaly... OMIM:620352
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Focal cortical dysplasia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Microce... OMIM:613155
Hydranencephaly
Atrophic pituitary gland, Ventriculomegaly, Dysgenesis of the thalamus, Dilatation of the ventric... ORPHA:2177
Fanconi Anemia, Complementation Group W
Ventriculomegaly, Decreased response to growth hormone stimulation test, Intrauterine growth reta... OMIM:617784
Neurodevelopmental Disorder With Dystonia And Seizures
Self-injurious behavior, Intrauterine growth retardation, Ventriculomegaly, Cerebral cortical atr... OMIM:619922
Heterotaxy, Visceral, 1, X-Linked
Failure to thrive, Myelomeningocele, Posteriorly placed anus, Hydrocephalus, Aqueductal stenosis,... OMIM:306955
Hemidystonia-Hemiatrophy Syndrome
Abnormal paranasal sinus morphology, Advanced pneumatization of cranial sinuses ORPHA:306741
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Cleft soft palate, Periventricular leukomalacia, Abnormal caudate n... ORPHA:293725
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
High, narrow palate, Self-injurious behavior, Ventriculomegaly, Cerebral atrophy, Recurrent hand ... OMIM:617268
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the pons, Failure to thrive OMIM:618276
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Secondary microcephaly, Hypoplasia of the corpus callosum, Hydrocephalus, Cerebral atrophy ORPHA:397951
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Ventriculomegaly, Primary microcephaly, High palate ORPHA:2172
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Progressive ... OMIM:615760
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Nasal polyposis, Recurrent intrapulmonary hemorrhage, Hypertrophic cardiomyopathy, Co... ORPHA:183
Aicardi-Goutieres Syndrome 9
Failure to thrive, Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia calcification, I... OMIM:619487
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Conjunctivitis, Recurrent pneumonia, Chronic sinusitis OMIM:612692
6P22 Microdeletion Syndrome
Low-set ears, Hearing impairment, Hydrocephalus, Overfolded helix, Patent ductus arteriosus ORPHA:251046
Non-Functioning Paraganglioma
Conductive hearing impairment, Sinus tachycardia, Congestive heart failure, Positive regitine blo... ORPHA:94080
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recurrent cerebra... OMIM:605714
Microscopic Polyangiitis
Vasculitis, Uveitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Subcutaneo... ORPHA:727
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly ORPHA:1188
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Macrotia, Congestive heart failure OMIM:300886
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)
Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Frontal polymicrogyria, Ce... OMIM:606854
Periventricular Nodular Heterotopia 1
Stroke, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Cerebral cortical atrophy, Ventriculomegaly, Abnormal periventr... ORPHA:370968
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Cleft palate ORPHA:945
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Immunodeficiency 102
Recurrent upper respiratory tract infections, Chronic sinusitis, Recurrent sinusitis, Chronic rhi... OMIM:301082
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage ORPHA:98880
Lissencephaly 8
Ventriculomegaly, Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Po... OMIM:617255
Neurocardiofaciodigital Syndrome
Lateral ventricle dilatation, Failure to thrive, Dilated fourth ventricle, Hypoplasia of the corp... OMIM:619869
Microcephaly 26, Primary, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Failure to thrive, Pachygyria, Pr... OMIM:619179
Developmental And Epileptic Encephalopathy 99
Ventriculomegaly, Frontotemporal cerebral atrophy, Microcephaly, Atrophy/Degeneration affecting t... OMIM:619606
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventriculomegaly, Postnatal growth retardation, Hypoplasia of the corpus callosum, Short stature,... OMIM:620210
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Ventriculomegaly, Bruxism, Decreased body weight, Aggressive behavior, Attention deficit hyperact... OMIM:618342
Ciliary Dyskinesia, Primary, 42
Pneumonia, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis OMIM:618695
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Cornelia De Lange Syndrome 2
Ventriculomegaly, Gastroesophageal reflux, Postnatal growth retardation, Intrauterine growth reta... OMIM:300590
Hemimegalencephaly
Ventriculomegaly, Focal cortical dysplasia, Polymicrogyria, Hemimegalencephaly, Hyperintensity of... ORPHA:99802
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Increased CSF lactate, Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618577
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Gastroesophageal reflux, Hypoplasia of the pons, Inc... ORPHA:500144
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Low-set ears, Patent ductus arteriosus, Micrognathia, Hydrocephalus ORPHA:1516
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Intrauterine ... ORPHA:272
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Hypopituitari... ORPHA:91350
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Ventriculomegaly, Polymicrogyria, Cortical dysplasia, Hypoplasia of the corpus callosum, Aggressi... OMIM:300354
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Sensorineural hearing impairment, Arthr... ORPHA:47
Maternal Uniparental Disomy Of Chromosome 1
Ventriculomegaly, Gastroesophageal reflux, Failure to thrive, Short stature, Growth delay ORPHA:251009
Narp Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Corticospinal tract atrophy, Short stature, Abnormal... ORPHA:644
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cerebral atrophy, Small basal gan... OMIM:616900
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Ventriculomegaly, Motor stereotypy, High palate OMIM:615637
Neuronal Intranuclear Inclusion Disease
Leukoencephalopathy, Increased CSF protein concentration, Ventriculomegaly, CSF pleocytosis OMIM:603472
Neurofibromatosis, Type I
Short stature, Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid cardiomyopathy, Delayed erupti... OMIM:300952
Multiple Mitochondrial Dysfunctions Syndrome 3
Ventriculomegaly, Cerebral atrophy, Polymicrogyria, Increased CSF lactate, Intrauterine growth re... OMIM:615330
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cerebral cortical atrophy, Hypopl... OMIM:617669
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Alobar holoprosencephaly, Agenesis of corpus callosum, Attention deficit hypera... OMIM:615433
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Cavum septum pellucidum, Megalencephaly OMIM:602501
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Ventriculomegaly, Decreased thalamic volume, Occipital enceph... ORPHA:370959
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Prader-Willi Syndrome Due To Translocation
Bifid uvula, Abnormal temper tantrums, Cerebral cortical atrophy, Head-banging, Lateral ventricle... ORPHA:177907
Felty Syndrome
Recurrent pneumonia, Episcleritis, Synovitis, Recurrent pharyngitis, Arthritis, Sinusitis, Rhinit... ORPHA:47612
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Joubert Syndrome 30
Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Molar tooth sign on MRI, Dandy-Wal... OMIM:617622
Acrofacial Dysostosis, Cincinnati Type
Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Decreased body weight, Micr... OMIM:616462
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Dworschak-Punetha Neurodevelopmental Syndrome
Cupped ear, Dilation of Virchow-Robin spaces, Large earlobe, Agenesis of corpus callosum, Dysplas... OMIM:619955
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Ventriculomegaly, Hydrocephalus, Pyloric stenosis OMIM:616355
Nephronophthisis 18
Tubulointerstitial nephritis, Hypertension, Hydrocephalus OMIM:615862
5Q14.3 Microdeletion Syndrome
Ventriculomegaly, Frontal cortical atrophy, Motor stereotypy, Hypoplasia of the corpus callosum ORPHA:228384
Developmental And Epileptic Encephalopathy 1
Microcephaly, Ventriculomegaly, Dysphagia, Growth delay OMIM:308350
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Short sperm flagella, Oligo... OMIM:620438
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Megalencephaly, Polymicrogyria ORPHA:83473
Plasminogen Deficiency, Type I
Nephritis, Ventriculomegaly, Recurrent upper respiratory tract infections, Periodontitis, Hydroce... OMIM:217090
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Ventriculomegaly OMIM:206570
Yellow Nail Syndrome
Hypoplasia of lymphatic vessels, Pulmonary arterial hypertension, Sinusitis, Rhinitis, Bronchiect... ORPHA:662
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Lissencephaly 6 With Microcephaly
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Microcephaly, Microlissencep... OMIM:616212
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Malar flattenin... OMIM:109120
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Cerebral atrophy, Increased CSF lactate, Basal ganglia cysts, Agenesis of corpu... OMIM:312170
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Intrauterine growth retardation, Ventriculomegaly, Microcephaly ORPHA:2643
1Q44 Microdeletion Syndrome
Ventriculomegaly, Intestinal malrotation, Agenesis of corpus callosum, Microcephaly, Hydrocephalu... ORPHA:238769
Intellectual Developmental Disorder, X-Linked 12
Ventriculomegaly, Microcephaly, Abnormal cerebral white matter morphology, Truncal obesity, Incre... OMIM:300957
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Attention deficit hyperactivity disorder, Microcephaly, Ventriculomegaly, Failure to thrive OMIM:619556
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Ventriculomegaly, Intrauterine growth retardation, Cavum septum pellucidum, Partial agenesis of t... OMIM:619074
Isotretinoin Embryopathy-Like Syndrome
Anotia, Micrognathia, Conotruncal defect, Hydrocephalus, Microtia OMIM:243440
Intellectual Developmental Disorder, Autosomal Dominant 51
Ventriculomegaly, Fixated interests, Failure to thrive, Recurrent hand flapping, Aggressive behav... OMIM:617788
Halperin-Birk Syndrome
Ventriculomegaly, Gastroesophageal reflux, Semilobar holoprosencephaly, Failure to thrive, Pseudo... OMIM:618651
Microcephaly 27, Primary, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Primary microcephaly, Simplified ... OMIM:619180
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Temple Syndrome
Bifid uvula, Obesity, Intrauterine growth retardation, Hydrocephalus, Truncal obesity, Short stat... OMIM:616222
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Ventriculomegaly, Disproportionate short-limb short stature, Lateral ventr... OMIM:619479
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Tooth abscess, Cutaneous abscess, Otitis ... ORPHA:331235
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis OMIM:615451
Baraitser-Winter Syndrome 2
Ventriculomegaly, Pachygyria, Secondary microcephaly, Agenesis of corpus callosum, Short stature,... OMIM:614583
Kohlschutter-Tonz Syndrome
Microcephaly, Ventriculomegaly, Cerebral atrophy OMIM:226750
Congenital Disorder Of Glycosylation, Type Ii
Ventriculomegaly, Gastroesophageal reflux, Focal T2 hyperintense basal ganglia lesion, Decreased ... OMIM:607906
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Short stature, Ventriculomegaly OMIM:611555
Goldberg-Shprintzen Megacolon Syndrome
Ventriculomegaly, Pachygyria, Hypoplasia of the corpus callosum, Aganglionic megacolon, Microceph... ORPHA:66629
Developmental And Epileptic Encephalopathy 65
Microcephaly, Ventriculomegaly, Cerebral atrophy OMIM:618008
Bacterial Toxic-Shock Syndrome
Pneumonia, Hypotension, Hepatitis, Fasciitis, Pharyngitis, Osteomyelitis, Shock, Skin rash, Infec... ORPHA:36234
Galloway-Mowat Syndrome 5
Pachygyria, Ventriculomegaly, Periventricular leukomalacia, Primary microcephaly OMIM:617731
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Spina bifida, Hydrocephalus, ... OMIM:207950
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Hypoplasia of the corpus callosum, Microcephaly, ... OMIM:611134
Autoinflammatory Disease, Systemic, X-Linked
Panuveitis, Osteomyelitis, Optic neuritis, Cerebral hemorrhage, Panniculitis, Anterior uveitis OMIM:301081
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... OMIM:620317
Noonan Syndrome 14
High, narrow palate, Short stature, Lateral ventricle dilatation OMIM:619745
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Hypoplasia of... OMIM:615181
Scedosporiosis
Pneumonia, Osteomyelitis, Sinusitis, Arthralgia/arthritis, Septic arthritis, Endocarditis, Perica... ORPHA:449280
Rheumatic Fever
Epistaxis, Recurrent pharyngitis, Arrhythmia, Arthritis, Sinusitis, Myocarditis, Endocarditis, Pe... ORPHA:3099
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral cortical atrophy, Ventriculomegaly, Failure to thrive, Cerebral atrophy, Increased CSF l... OMIM:619272
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Hearing impairment, Recurrent otitis media, Pyoderma, Decreased response to growth hor... OMIM:307200
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy, Hyperactivity ORPHA:599373
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Cog8-Cdg
Protein-losing enteropathy, Ventriculomegaly, Failure to thrive, Progressive microcephaly, Atroph... ORPHA:95428
Mitochondrial Complex I Deficiency, Nuclear Type 33
Ventriculomegaly, Reduced cerebral white matter volume, Increased CSF lactate, Intrauterine growt... OMIM:618253
Primary Angiitis Of The Central Nervous System
Abnormal CSF protein concentration, Cerebral vasculitis, Transient ischemic attack, Stroke, Intra... ORPHA:140989
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Conductive hearing impairment, Malar flattening, Hydrocephalus, Inflam... ORPHA:93262
Mucopolysaccharidosis Type 1
Hearing impairment, Congestive heart failure, Hypertrophic cardiomyopathy, Sensorineural hearing ... ORPHA:579
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Hearing impairment, Low-set, posteriorly rotated ears, Hypertrophic cardiomyopathy... ORPHA:2701
Infantile Sialic Acid Storage Disease
Cerebral atrophy, High palate, Hydrocephalus, Failure to thrive OMIM:269920
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ventriculomegaly, Cerebral calcification, Microcephaly, Cachexia, Short stature ORPHA:1933
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Intrauterine growth retardation, Hyperintensity of c... ORPHA:48431
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Low-set ears, Pneumonia, Micrognathia, Malar flattening, Sinusitis, Bronchiectasis OMIM:242860
Pallister-Hall-Like Syndrome
Microglossia, Occipital encephalocele, Microcephaly, Hypothalamic hamartoma, Hydrocephalus, Short... OMIM:241800
Gabriele-De Vries Syndrome
Lateral ventricle dilatation, Intrauterine growth retardation, Attention deficit hyperactivity di... OMIM:617557
Joubert Syndrome 14
Low-set ears, Malar flattening, Encephalocele, Intracranial hemorrhage, Hypertension, Hydrocephal... OMIM:614424
Pyridoxine-Dependent Epilepsy
Ventriculomegaly, Restlessness, Hypoplasia of the corpus callosum ORPHA:3006
Cornelia De Lange Syndrome 5
Ventriculomegaly, Gastroesophageal reflux, Postnatal growth retardation, Microcephaly, Truncal ob... OMIM:300882
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... ORPHA:183675
Rasmussen Subacute Encephalitis
Increased CSF protein concentration, Ventriculomegaly, Focal cortical dysplasia, Abnormal basal g... ORPHA:1929
Cyclic Neutropenia
Periodontitis, Pharyngitis, Otitis media, Peritonitis, Enterocolitis, Perianal abscess, Tooth abs... ORPHA:2686
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Short stature, Dys... OMIM:618367
Caribbean Parkinsonism
Cerebral cortical atrophy, Ventriculomegaly, T2 hypointense basal ganglia, Midline brain calcific... ORPHA:97355
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Keratitis, Nasal mucosa vasculitis, Subglottic stenosis, Episcleriti... OMIM:608710
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Ventriculomegaly, Anteriorly placed anus OMIM:618624
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Ventriculomegaly, Dilated cardiomyopathy, Agenesis of corpus callosum, Arrhythmia, ... OMIM:608836
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Ventriculomegaly, Frontal cortical atrophy ORPHA:206559
Congenital Neuronal Ceroid Lipofuscinosis
Cerebral hypoplasia, Ventriculomegaly, Neuronal loss in the cerebral cortex, Agenesis of corpus c... ORPHA:168486
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ...