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
Microcephaly 19, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Failure to thrive in infancy, Decreased body... OMIM:617800
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Bronchiectasis, Conductive hearing impairment, Ciliary dyskinesia, Nasal polyp... OMIM:244400
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Cortical dyspla... OMIM:615763
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus OMIM:615938
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Absent septum pellucidum, Corticospinal tract hypoplasia, Aqueductal stenosis, Age... OMIM:307000
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly, Small cerebral cortex, Abnormal cerebral morphology, Simplified gyral pattern, ... ORPHA:329228
Ciliary Dyskinesia With Excessively Long Cilia
Recurrent bronchitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Nasal po... OMIM:242680
Ciliary Dyskinesia, Primary, 6
Abnormal ciliary motility, Ciliary dyskinesia, Recurrent sinusitis, Sinusitis, Abnormal respirato... OMIM:610852
Porencephaly
Ventriculomegaly, Porencephalic cyst ORPHA:2940
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum, Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Agenesis of corp... ORPHA:2182
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Perisylvian polymicrogyria, Enlarged sylvian cistern OMIM:615752
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Recurrent bronchitis, Bronchiectasis, Recurrent si... OMIM:617091
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly, Cerebral atrophy OMIM:612900
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent res... OMIM:612649
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Chronic sinusitis, Recurrent respiratory in... OMIM:612650
Ciliary Dyskinesia, Primary, 10
Ciliary dyskinesia, Chronic otitis media, Recurrent sinusitis, Chronic sinusitis, Abnormal respir... OMIM:612518
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Ciliary dyskinesia, Cough, Chronic rhinitis, Chronic sinusitis, Abnormal respirat... OMIM:614679
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Ischemic stroke, Intraventricular hemorrhage, Subarachnoid hemorrhage, Subdura... ORPHA:284388
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Productive cough, Neonatal respirat... OMIM:618699
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... OMIM:604213
Vacterl Association With Hydrocephalus
Stillbirth, Anal atresia, Hydrocephalus, Aqueductal stenosis OMIM:276950
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
L1 Syndrome
Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis ORPHA:275543
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Abnormal... OMIM:613808
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the brainstem, Thick cerebral cortex, Hypoplasia of the corpus callosum, Ventriculo... OMIM:618677
Lissencephaly 1
Hypoplasia of the brainstem, Pachygyria, Ventriculomegaly, Abnormal cerebral white matter morphol... OMIM:607432
Bowen-Conradi Syndrome
Cryptorchidism, Ventriculomegaly, Severe intrauterine growth retardation, Short stature, Microcep... ORPHA:1270
Ciliary Dyskinesia, Primary, 14
Chronic sinusitis, Abnormal ciliary motility, Wheezing, Bronchiectasis, Ciliary dyskinesia, Absen... OMIM:613807
Arnold-Chiari Malformation Type Ii
Agenesis of corpus callosum, Brain stem compression, Dysphagia, Ventriculomegaly, Aqueductal sten... ORPHA:1136
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Bronchiectasis, Pulmonary insufficiency, Ciliary dyskinesia, Absent ou... OMIM:614017
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Microcephaly, Ventriculomegaly, Cerebral atrophy OMIM:617051
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Thick cerebral cortex, Dilation of lateral ventricles ORPHA:101071
Fanconi Anemia, Complementation Group R
Microcephaly, Growth delay, Anal atresia, Hydrocephalus OMIM:617244
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... OMIM:618730
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Ciliary dyskinesia, Absent respiratory ciliary axoneme ra... OMIM:242670
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Ciliary Dyskinesia, Primary, 13
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Absent inner dynein arms, Recurrent oti... OMIM:613193
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral white matter hypoplasia, Ce... ORPHA:3207
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Increased CSF lactate, Ventri... ORPHA:79243
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Moderate Hemophilia A
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag... ORPHA:169805
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Small cerebral cortex, Cortical dysplasia, S... OMIM:608716
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Ventriculomegaly, Aqueductal stenosis OMIM:600907
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Intestinal malrotation, Cerebral calcification, Aqueductal stenosis ORPHA:3035
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Combined Oxidative Phosphorylation Deficiency 39
Pachygyria, Increased CSF lactate, Ventriculomegaly, Simplified gyral pattern, Intrauterine growt... OMIM:618397
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormal corpus callosum morphology, Cortical dysplasia, Microcephaly, Hydrocep... OMIM:618709
Mental Retardation, Autosomal Dominant 48
Anteverted nares, Hypoplasia of the corpus callosum, Abnormality of the pinna, Dilated fourth ven... OMIM:617751
Bonnemann-Meinecke-Reich Syndrome
Ventriculomegaly, Cerebral calcification, Short stature, Microcephaly, Decreased response to grow... ORPHA:1261
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Agenesis of corpus callosum, Aqueductal stenosis ORPHA:1496
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615067
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
16P13.2 Microdeletion Syndrome
Cryptorchidism, Overweight, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ven... ORPHA:500055
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Ventriculomegaly, Megalencephaly, Diffuse swelling of cerebra... OMIM:613925
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, Short stature, At... OMIM:617862
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615500
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Short stature ORPHA:2466
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Ventriculomegaly, Pachygyria, Agyria, Enlarged sylvian cistern ORPHA:1084
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:171703
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Lissencephaly 3
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Pol... OMIM:611603
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Micrognathia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Ventriculomegaly, Short stature, Simplified gyral pattern, Failure t... OMIM:617090
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615504
Galloway-Mowat Syndrome
Hiatus hernia, Pachygyria, Aqueductal stenosis, Short stature, Intrauterine growth retardation, M... ORPHA:2065
Olivopontocerebellar Atrophy-Deafness Syndrome
Cerebral cortical atrophy, Ventriculomegaly ORPHA:2732
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Conductive hearing impairment, Cough, Chronic otitis media, Absent inner and oute... OMIM:618063
Ciliary Dyskinesia, Primary, 22
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent inner and... OMIM:615444
Beemer Lethal Malformation Syndrome
Hydrocephalus, Wide nasal bridge OMIM:209970
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Increased CSF lactate, Ventriculomegaly, Hypoplasia of the corpus ca... ORPHA:255182
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Atrophy/Degeneration affecting the brainstem, Abnormal pons morphology, ... ORPHA:77299
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ventriculomegaly, Simplified gyral pattern, Microcephaly, Prog... OMIM:613402
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:608647
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, P... OMIM:616486
Brain Small Vessel Disease 2
Porencephalic cyst, Intracranial hemorrhage, Ventriculomegaly, Polymicrogyria, Schizencephaly OMIM:614483
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absen... OMIM:614874
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, G... ORPHA:208447
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Volvulus, Failure to thrive, High pal... OMIM:618606
Hemiparkinsonism-Hemiatrophy Syndrome
Neonatal asphyxia, Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
D-2-Hydroxyglutaric Aciduria 1
Apnea, Aortic regurgitation, Micrognathia, Inspiratory stridor, Dilation of lateral ventricles, S... OMIM:600721
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Atelectasis, Neona... OMIM:615294
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, ... OMIM:618736
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Developmental And Epileptic Encephalopathy 54
Microcephaly, Ventriculomegaly OMIM:617391
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, High-frequency hearing impairment, Atelectasis, Chronic sinusitis, Otitis m... OMIM:300455
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615505
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Ventriculomegaly, Aqueductal stenosis OMIM:600906
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly, Polymicrogyria OMIM:612691
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism, Ventriculomegaly, Cerebral cortical atrophy ORPHA:1568
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Gastroesophageal reflux, Dilation of ... ORPHA:397715
Congenital Hydrocephalus
Bulbous nose, Hydrocephalus, Ventriculomegaly, Posteriorly rotated ears, Small cerebral cortex, A... ORPHA:2185
Glutamine Deficiency, Congenital
Apnea, Short nose, Anteverted nares, Hypoplasia of the corpus callosum, Wide nasal bridge, Subepe... OMIM:610015
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hearing impairment, Periodontitis, Hydrocephalus ORPHA:1008
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Pneumonia, Otitis media, Sinusitis OMIM:312863
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Dilation of lateral ventricl... ORPHA:284417
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dysphagia, Ventriculomegaly, Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum... OMIM:617669
Riddle Syndrome
Chronic sinusitis, Conjunctival telangiectasia, Restrictive ventilatory defect, Intraventricular ... ORPHA:420741
Pseudo-Torch Syndrome 2
Ventriculomegaly, Respiratory insufficiency, Polymicrogyria, Cerebral hemorrhage, Petechiae, Cere... OMIM:617397
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Ventriculomegaly OMIM:618383
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bilateral cryptorchidism, Dysplastic corpus callosum, Hyperintensity of cerebral white matter on ... ORPHA:544488
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysphagia, Ventriculomegaly, Hypoplasia of the corpus callosum, Multifocal hyperintensity of cere... ORPHA:488627
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity, Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Recurrent bronchitis, Chronic oral candidiasis, Recurre... OMIM:613953
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Recurrent pneumo... OMIM:612692
Slc35A2-Cdg
Cerebral white matter atrophy, Abnormal midbrain morphology, Hypoplasia of the corpus callosum, A... ORPHA:356961
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Brain Small Vessel Disease 3
Cerebral hemorrhage, Cerebral atrophy, Cerebral calcification, Leukoencephalopathy OMIM:618360
Cach Syndrome
T2 hypointense thalamus, Dysphagia, Growth delay, Cerebral atrophy, Atrophy/Degeneration affectin... ORPHA:135
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Absent outer dynein arms, Nasa... OMIM:616037
Pfeiffer Syndrome Type 2
Intestinal malrotation, Aqueductal stenosis, Anal atresia, Cleft palate, High palate, Hydrocephalus ORPHA:93259
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Chronic sinusitis, Hydrocephalus, Anomalous pulmonary ... ORPHA:244
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Short stature, Microcephaly, Agenesis of corpus callosum OMIM:303350
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Microcephaly, Ventriculomegaly, Cerebral calcification ORPHA:1980
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Ventriculomegaly, Cerebral atrophy, Agenesis of corpus callosum, Partial... ORPHA:85179
Vacterl With Hydrocephalus
Cryptorchidism, Spina bifida, Arrhinencephaly, Esophageal atresia, Aqueductal stenosis, Anal atre... ORPHA:3412
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infect... OMIM:215520
Aspergillosis
Pleuritis, Bronchiectasis, Intracranial hemorrhage, Cough, Pneumonia, Abnormal tracheobronchial m... ORPHA:1163
Severe X-Linked Intellectual Disability, Gustavson Type
Profound hearing impairment, Short nose, Macrotia, Recurrent upper respiratory tract infections, ... ORPHA:3078
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Cerebral calcification ORPHA:99966
Hemophilia A
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Bleeding with minor o... ORPHA:98878
Multiple Mitochondrial Dysfunctions Syndrome 5
Microcephaly, Ventriculomegaly, Pachygyria, Growth delay OMIM:617613
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Anteverted nares, Hydrocephalus OMIM:300884
Ciliary Dyskinesia, Primary, 24
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Dandy-Walker Syndrome
Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydrocephalus OMIM:220200
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Sinusitis, Conjunctivitis... OMIM:601495
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhinitis, Recurrent r... OMIM:618801
Developmental And Epileptic Encephalopathy 49
Macrotia, Ventriculomegaly, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-Walker mal... OMIM:617281
Acrofacial Dysostosis, Rodríguez Type
Intrauterine growth retardation, Arrhinencephaly, Aqueductal stenosis ORPHA:1788
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral hypoplasia, Microcephaly OMIM:617977
Immunodeficiency 32B
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Sinusitis OMIM:226990
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
Methylmalonic Acidemia With Homocystinuria
Skin rash, Microcephaly, Hydrocephalus ORPHA:26
Pettigrew Syndrome
High-frequency hearing impairment, Ventriculomegaly, Mandibular prognathia, Abnormality of the ba... OMIM:304340
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Increased CSF lactate, ST segment depression, Hypopituitarism, Hypertension, Abn... ORPHA:90065
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Hypoplasia of the corpus callosum, Ventriculomegaly, Short stature, Agenesis of corpus callosum, ... ORPHA:262767
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hydroceph... ORPHA:2703
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent respiratory infections, Chronic sinusitis OMIM:613502
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Corpus callosum atrophy, Increased CSF lactate, Hypoplasia of the corpus callosum... ORPHA:565624
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Cryptorchidism, Ventriculomegaly, Abnormal cerebral white matter... OMIM:617557
Malan Overgrowth Syndrome
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, High palate, Di... ORPHA:420179
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Ventriculomegaly, Cerebral calcification, Severe short stature, Decreased response to growth horm... OMIM:225755
Alexander Disease
Agenesis of corpus callosum, Dysphagia, Megalencephaly, Aqueductal stenosis, Cerebral calcificati... ORPHA:58
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Ciliary Dyskinesia, Primary, 25
Chronic pulmonary obstruction, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Immotile ... OMIM:615482
Methanol Poisoning
Basal ganglia necrosis, Bilateral basal ganglia lesions, Abnormal caudate nucleus morphology, Int... ORPHA:31825
Ciliary Dyskinesia, Primary, 19
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent inner and... OMIM:614935
Pfeiffer Syndrome Type 1
High palate, Aqueductal stenosis ORPHA:93258
Cleft Lip With Or Without Cleft Palate
Hearing impairment, Recurrent otitis media, Chronic sinusitis ORPHA:1991
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Dysphagia, Hypopl... ORPHA:2148
Spermatogenic Failure 38
Absent sperm flagella, Abnormal sperm head morphology, Oligospermia, Abnormal axonemal organizati... OMIM:618433
Xylosidase Deficiency
Microcephaly, Ventriculomegaly OMIM:278900
Aicardi Syndrome
Hiatus hernia, Spina bifida, Cavum septum pellucidum, Pachygyria, Choroid plexus cyst, Hepatoblas... OMIM:304050
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Hypoplasia of the brainstem, Type II lissencephaly, Normal pr... ORPHA:300570
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Wide nasal bridge OMIM:614870
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Recurrent upper and lower respiratory tract infections, Rhinitis, Asthma, Sinu... ORPHA:70593
Microcephaly-Cardiomyopathy Syndrome
Ventriculomegaly, Short stature, Intrauterine growth retardation, Microcephaly, High, narrow palate ORPHA:2515
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Intellectual Developmental Disorder, X-Linked 103
Cryptorchidism, Ventriculomegaly, Polymicrogyria OMIM:300982
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Microglossia OMIM:616540
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Cough, Nasal polyposis, Chronic rhinitis, Chronic sinusitis, Recurrent respirator... OMIM:617092
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Azoospermia, Hypertension, Cerebral hemorrhage, Dilated car... ORPHA:280679
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Growth delay, Microcephaly, Dilation of lateral ventricles ORPHA:85290
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Stroke, Dilatation of the c... ORPHA:36382
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Colpocephaly, Dysplastic corpus callosum, Polymicrogyria, Agenesis o... ORPHA:250972
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Azoospermia, Cerebral hemorrhage, Stroke-like episode, Abnormal cerebral vas... OMIM:300845
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Intracranial hemorrhage, Recurrent subcortical infarcts, Abnormal cerebral white... ORPHA:136
Achondroplasia
Conductive hearing impairment, Recurrent otitis media, Megalencephaly, Upper airway obstruction, ... OMIM:100800
Pfeiffer Syndrome Type 3
Intestinal malrotation, Aqueductal stenosis, Anal atresia, Cleft palate, High palate ORPHA:93260
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Cleft palate, Molar tooth sign on MRI, Agenesis of ... OMIM:614120
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Anteverted nares, Hypoplasia of the corpus callosum, Mandibular prognath... ORPHA:464738
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Ecchymosis, Prolonged bleeding after surgery, Persistent ble... ORPHA:331
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:304100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of ... OMIM:613154
Catel-Manzke Syndrome
Ventriculomegaly, Cleft palate, Glossoptosis, Failure to thrive, Short stature ORPHA:1388
Cerebral Cavernous Malformations 3
Abnormal cerebral morphology, Cerebral hemorrhage OMIM:603285
Temple Syndrome
Cryptorchidism, Polyphagia, Postnatal growth retardation, Obesity, Small for gestational age, Sho... ORPHA:254516
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Small for gestational age, Dilation of lateral ventricles OMIM:619278
Mehmo Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Obesity, Delayed puberty, Birth length less ... OMIM:300148
Hsd10 Disease
Gastrointestinal dysmotility, Dysphagia, Ventriculomegaly, Postnatal growth retardation, Frontote... ORPHA:391417
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Cerebral cavernous malformation, Telangiectasia, Stroke OMIM:603284
Abetal34V Amyloidosis
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324703
Macdermot-Winter Syndrome
Intrauterine growth retardation, Microcephaly, Ventriculomegaly OMIM:247990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
3-Hydroxyisobutyric Aciduria
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, Cerebral ... ORPHA:939
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Hypoplasia of the corpus callosum, Growth delay, Abnormal latera... ORPHA:488635
Wars2-Related Combined Oxidative Phosphorylation Defect
Hypoplasia of the brainstem, Abnormal periventricular white matter morphology, Dysphagia, Ventric... ORPHA:572798
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Gastroesophageal reflux, Growth delay, Short... ORPHA:1495
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent upper respiratory tract infections, Pulmonary insufficiency, Recur... ORPHA:277
Paganini-Miozzo Syndrome
Mandibular prognathia, Dilation of lateral ventricles, Microtia OMIM:301025
Holoprosencephaly 5
Semilobar holoprosencephaly, Macrotia, Holoprosencephaly, Alobar holoprosencephaly, Lobar holopro... OMIM:609637
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Overweight, Frontal cortical atrophy, Dysphagia, Hypo... ORPHA:2822
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Cerebral hemorrhage, Stroke OMIM:105150
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic otitis media, Nasal polyp... OMIM:604571
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
1Q21.1 Microduplication Syndrome
Cryptorchidism, Gastroesophageal reflux, Hydrocephalus, Failure to thrive ORPHA:250994
Scedosporiosis
Arthralgia/arthritis, Pericarditis, Endocarditis, Pleuritis, Pulmonary fibrosis, Decreased pulmon... ORPHA:449280
Autosomal Recessive Primary Microcephaly
Pachygyria, Ventriculomegaly, Growth delay, Short stature, Hypoplasia of the frontal lobes, Micro... ORPHA:2512
2,4-Dienoyl-Coa Reductase Deficiency
Microcephaly, Ventriculomegaly, Cerebral atrophy, Failure to thrive OMIM:616034
Orofaciodigital Syndrome Xv
Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Lobulated tongue OMIM:617127
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Prominent antihelix, Thickened helices, Abnormal caudate nucleus morphology, Choroid plexus cyst,... ORPHA:293725
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Ventriculomegaly OMIM:619323
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Corticospinal tract hypopla... ORPHA:255138
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Abnormal cerebral white matter morphology, Cerebral atrophy, Dilated third ventricle, Atrophy/Deg... ORPHA:314404
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Petechiae, Cerebral hemorrhage, Bruising suscept... ORPHA:3002
Febrile Infection-Related Epilepsy Syndrome
Cough, Sinusitis ORPHA:163703
Spastic Paraplegia 47, Autosomal Recessive
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Ventriculome... OMIM:614066
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Aqueductal stenosis, Polymicrogyria, Short stature, Cleft palate, Microcep... OMIM:154400
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
Fried Syndrome
Hearing impairment, Hydrocephalus, Cerebral calcification, Macrotia ORPHA:85335
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Proportionate short stature, In... ORPHA:759
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia cysts, Increased CSF lactate, Ventriculomegaly, Cerebral atrophy, Small for gestati... OMIM:312170
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly, Hydranencephaly, Intrauterine growt... OMIM:225790
Autosomal Recessive Spastic Paraplegia Type 53
Microcephaly, Ventriculomegaly, Cortical dysplasia, Failure to thrive ORPHA:319199
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly,... OMIM:218350
Epilepsy, Early-Onset, Vitamin B6-Dependent
Secondary microcephaly, Ventriculomegaly OMIM:617290
Kleeblattschaedel
Hydrocephalus OMIM:148800
Hemidystonia-Hemiatrophy Syndrome
Advanced pneumatization of cranial sinuses, Abnormal paranasal sinus morphology, Abnormal periven... ORPHA:306741
Central Neurocytoma
Cerebral calcification, Abnormal lateral ventricle morphology, Tinnitus, Hydrocephalus ORPHA:73256
Lissencephaly 5
Hypoplasia of the brainstem, Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus ... OMIM:615191
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Productive cough... OMIM:615451
Koolen-De Vries Syndrome Due To A Point Mutation
Pear-shaped nose, Intraventricular hemorrhage, Bulbous nose, Underdeveloped nasal alae, Eczema, H... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pear-shaped nose, Intraventricular hemorrhage, Bulbous nose, Underdeveloped nasal alae, Eczema, H... ORPHA:363958
Familial Scaphocephaly Syndrome, Mcgillivray Type
High palate, Ventriculomegaly ORPHA:168624
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia, Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy, Dilation of lateral ... OMIM:607485
Peho-Like Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Progressive micr... OMIM:617507
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Bulbous nose, Abnormal cerebral white matter morphology, Mandibular prognathia... OMIM:600991
Developmental And Epileptic Encephalopathy 1
Dysphagia, Ventriculomegaly, Microcephaly, Growth delay OMIM:308350
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Dysphagia, Ventriculomegaly, Abnormal cerebral white matter morp... OMIM:618253
Cog5-Cdg
Cryptorchidism, Cerebral white matter atrophy, Atrophy/Degeneration affecting the brainstem, Shor... ORPHA:263487
Trisomy 5P
Ventriculomegaly, Short stature, Obesity ORPHA:1742
Isolated Agammaglobulinemia
Skin rash, Pneumonia, Recurrent respiratory infections, Inflammatory abnormality of the eye, Recu... ORPHA:229717
Developmental And Epileptic Encephalopathy 59
Ventriculomegaly OMIM:617904
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324708
Combined Oxidative Phosphorylation Deficiency 2
Ventriculomegaly, Small for gestational age, Agenesis of corpus callosum OMIM:610498
Fragile X Syndrome
Mandibular prognathia, Chronic otitis media, Cerebral cortical atrophy, Protruding ear, Sinusitis... ORPHA:908
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Hypoplasia of the corpus callosum, Ventriculomegaly, Gastroesophageal reflux, Failure to thrive, ... OMIM:618603
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral calcification OMIM:116860
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Conductive hearing impairment, Ciliary dyskinesia, Recurren... OMIM:616726
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Mandibular prognathia, Cupped ear, Pulmonic stenosis, Retrogna... OMIM:618914
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Respiratory insufficiency, Cere... OMIM:610333
Histidinuria-Renal Tubular Defect Syndrome
Cerebral cortical atrophy, Ventriculomegaly ORPHA:2158
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Ventriculomegaly, Episodic tachypnea, Posteriorly rotated ears, Apneic episodes in in... ORPHA:163961
Mitochondrial Complex I Deficiency, Nuclear Type 6
Ventriculomegaly, Failure to thrive OMIM:618228
Temple Syndrome
Cryptorchidism, Overweight, Decreased testicular size, Intrauterine growth retardation, Truncal o... OMIM:616222
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Cough, Nasal polyposis, Respiratory insufficiency, Sinusitis, Myocarditis, Myositis, T... ORPHA:183
Skraban-Deardorff Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:617616
Developmental And Epileptic Encephalopathy 70
Cryptorchidism, Ventriculomegaly, Microcephaly, Cerebral cortical atrophy OMIM:618298
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Apnea, Basal ganglia cysts, Arrhythmia, Bulbous nose, Respira... OMIM:608836
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Aneurysm, Intracranial Berry, 12
Subarachnoid hemorrhage, Cerebral berry aneurysm, Fusiform cerebral aneurysm OMIM:618734
Lissencephaly 8
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria,... OMIM:617255
Yellow Nail Syndrome
Pleuritis, Dyspnea, Bronchiectasis, Cough, Rhinitis, Neoplasm of the lung, Sinusitis, Pulmonary a... ORPHA:662
Pontocerebellar Hypoplasia, Type 9
Macroglossia, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, Mic... OMIM:615809
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Abnormal cerebral white matter morphology, Pyloric stenosis, Abnormal co... ORPHA:457279
Internal Carotid Absence
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia ORPHA:981
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hypoplasia of the brainstem, Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter... ORPHA:352682
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Hydrocephalus, Cleft palate OMIM:258320
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Cough, Chronic otitis media, Recurrent respiratory infections, Conjunc... ORPHA:33110
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Ventriculomegaly, Molar tooth sign on MRI OMIM:617761
Gm1-Gangliosidosis, Type Ii
Ventriculomegaly, Cerebral atrophy OMIM:230600
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Megalencephaly, Polymicrogyria, Mitral regurgitation, Abnormal nasal morphology, D... ORPHA:83473
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum, Polymicrogyria OMIM:618291
Dengue Fever
Skin rash, Cardiorespiratory arrest, Gastrointestinal hemorrhage, Hypotension, Epistaxis, Petechi... ORPHA:99828
Cardiomyopathy, Familial Restrictive, 1
Ventriculomegaly OMIM:115210
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Microcephaly, Hydrocephalus ORPHA:398189
Moyamoya Disease
Ventriculomegaly ORPHA:2573
Kohlschutter-Tonz Syndrome-Like
Overweight, Dysphagia, Ventriculomegaly, Gastroesophageal reflux, Decreased body weight, Lactose ... OMIM:619229
17P13.3 Microduplication Syndrome
High palate, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:217385
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Abnormal lung lobation ORPHA:945
Biemond Syndrome Type 2
Delayed puberty, Hydrocephalus, Short stature, Obesity ORPHA:141333
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Hydrocephalus, Short stature ORPHA:1532
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Respiratory insufficiency OMIM:215550
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Subarachnoid hemorrhage, Recurrent sinopulmonary infections, Cerebral vasculit... OMIM:243700
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Hydrocephalus, Simplified gyral pattern, Agenesis of corpus callosum... OMIM:619302
Mitochondrial Complex I Deficiency, Nuclear Type 31
Ventriculomegaly, Failure to thrive OMIM:618251
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Ventriculomegaly, Abnormal cerebr... OMIM:613153
Rheumatic Fever
Arrhythmia, Endocarditis, Pericarditis, Abnormal pleura morphology, Hemiballismus, Epistaxis, Res... ORPHA:3099
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Corpus callosum atrophy, Dysphagia, Ventr... OMIM:608809
Distal Monosomy 10Q
Cavum septum pellucidum, Postnatal growth retardation, Anal atresia, Spina bifida occulta, Cleft ... ORPHA:96148
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Polymicrogyria, Hydrocephalus, Large e... OMIM:602501
Wyburn-Mason Syndrome
Subarachnoid hemorrhage, Epistaxis, Hearing impairment, Cerebral hemorrhage, Abnormal cerebral va... ORPHA:53719
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Midl... OMIM:617542
Glutaric Acidemia I
Failure to thrive, Dilation of lateral ventricles OMIM:231670
3-Methylglutaconic Aciduria, Type Viii
Increased CSF lactate, Ventriculomegaly, Hypoplasia of the corpus callosum, Cerebral atrophy, Gro... OMIM:617248
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Ventriculomegaly, Cerebral dysmyelination, Cortical dysplasia, Micro... ORPHA:101070
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Posterior fossa cyst at the fourth ventricle, Wide nasal bridge, Dilated fourt... OMIM:220220
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Hydrocephalus ORPHA:324416
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
High palate, Ventriculomegaly, Cerebral atrophy, Microcephaly OMIM:617804
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification ORPHA:1931
Orofaciodigital Syndrome Type 14
Hypoplasia of the corpus callosum, Hamartoma of tongue, Bilateral cryptorchidism, Aplasia of the ... ORPHA:434179
Hydranencephaly
Dysgenesis of the thalamus, Antenatal intracerebral hemorrhage, Infantile sensorineural hearing i... ORPHA:2177
Mental Retardation, Autosomal Dominant 20
Ventriculomegaly, Abnormal periventricular white matter morphology, Abnormal cerebral white matte... OMIM:613443
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Cough, Pneumonia... OMIM:612444
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Microcephaly, Ventriculomegaly, Hypoplasia of the pons OMIM:613151
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Hypoplasia of the brainstem, Ventriculomegaly, Short stature OMIM:618273
Congenital Toxoplasmosis
Ventriculomegaly, Failure to thrive in infancy, Cerebral calcification, Intrauterine growth retar... ORPHA:858
Methylmalonic Acidemia With Homocystinuria Type Cblf
Skin rash, Stomatitis, Intraventricular hemorrhage ORPHA:79284
Pseudo-Torch Syndrome 3
Apnea, Lymphadenitis, Abnormal cerebral white matter morphology, Hypertension, Respiratory insuff... OMIM:618886
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callos... ORPHA:370968
Spastic Paraplegia 50, Autosomal Recessive
High palate, Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly OMIM:612936
Felty Syndrome
Pleuritis, Pericarditis, Pulmonary fibrosis, Chronic otitis media, Synovitis, Sinusitis, Episcler... ORPHA:47612
Neurofibromatosis, Type I
Spina bifida, Pheochromocytoma, Aqueductal stenosis, Short stature, Parathyroid adenoma, Hydrocep... OMIM:162200
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Short stature, High, narrow palate, Hydrocephalus, Obesity ORPHA:2183
Hydrocephalus With Associated Malformations
Intrauterine growth retardation, Intestinal malrotation, Hydrocephalus OMIM:236640
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Ventriculomegaly, Meningocele, Encephalitis, Dandy-Walker malformation ORPHA:2481
Combined Oxidative Phosphorylation Deficiency 14
Ventriculomegaly, Growth delay, Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, M... OMIM:614946
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Pontocerebellar Hypoplasia, Type 10
Cryptorchidism, Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal cerebral white matt... OMIM:615803
Granulomatosis With Polyangiitis
Pleuritis, Cough, Chronic otitis media, Uveitis, Elevated bronchoalveolar lavage fluid neutrophil... OMIM:608710
6Q25 Microdeletion Syndrome
Ventriculomegaly, Short stature, Cleft palate, Failure to thrive, High palate, Microcephaly, Agen... ORPHA:251056
Fanconi Anemia, Complementation Group W
Abnormal periventricular white matter morphology, Ventriculomegaly, Growth delay, Duodenal atresi... OMIM:617784
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Gastroesophagea... ORPHA:2524
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Obesity ORPHA:521390
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Bulbous nose, Ventriculomegaly, Posteriorly rotated ears, Sensorineu... OMIM:615219
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
High palate, Ventriculomegaly, Primary microcephaly ORPHA:2172
Craniotelencephalic Dysplasia
Hydrocephalus, Low-set, posteriorly rotated ears, Arrhinencephaly, Septo-optic dysplasia, Microce... ORPHA:1528
Charge Syndrome
Cryptorchidism, Abnormal soft palate morphology, Anterior hypopituitarism, Holoprosencephaly, Gas... ORPHA:138
Hemimegalencephaly
Pachygyria, Ventriculomegaly, Polymicrogyria, Hyperintensity of cerebral white matter on MRI, Foc... ORPHA:99802
Microscopic Polyangiitis
Peritonitis, Skin rash, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Increased inflamma... ORPHA:727
Christianson Syndrome
Aplasia/Hypoplasia of the corpus callosum, Dysphagia, Ventriculomegaly, Gastroesophageal reflux, ... ORPHA:85278
Myopathy, Congenital, Bailey-Bloch
Cryptorchidism, Ventriculomegaly, Short stature, Cleft palate, High palate, Microcephaly OMIM:255995
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly ORPHA:1188
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Increased CSF lactate, Microcephaly, Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Colpocephaly ORPHA:401815
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
X-Linked Agammaglobulinemia
Skin rash, Abnormal lung morphology, Chronic otitis media, Sinusitis, Conjunctivitis, Hepatitis, ... ORPHA:47
Sneddon Syndrome
Cerebral hemorrhage, Ischemic stroke, Hypertension OMIM:182410
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Recurrent subcortical infarcts, Stroke, Abnormal CSF protein level, Cere... ORPHA:140989
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal lung morphology, Central sleep apnea, Gastrointestinal hemorrhage, Hematemesis, Intracra... ORPHA:464321
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short nose, Bronchiectasis, Pneumonia, Malar flattening, Sinusitis, Micrognathia, Anteverted nare... OMIM:242860
Mental Retardation, Autosomal Dominant 35
Ventriculomegaly, Pyloric stenosis, Hydrocephalus OMIM:616355
Congenital Muscular Dystrophy Without Intellectual Disability
Microcephaly, Ventriculomegaly, Pachygyria, Abnormal cerebral white matter morphology ORPHA:370980
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Wide nasal bridge... OMIM:618577
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Ventriculomegaly, Caudate atrophy, Frontal cortical atrophy, Temporal cortical atrophy ORPHA:137831
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Ventriculomegaly, Decreased testicular size, Alobar holoprosencephaly, High palat... OMIM:615433
X-Linked Intellectual Disability, Cantagrel Type
Hypoplasia of the corpus callosum, Ventriculomegaly, Gastroesophageal reflux, Cerebral cortical a... ORPHA:85277
Kohlschutter-Tonz Syndrome
Ventriculomegaly, Cerebral atrophy OMIM:226750
Polymicrogyria, Bilateral Frontoparietal
Hypoplasia of the brainstem, Ventriculomegaly, Frontal polymicrogyria, Cerebral dysmyelination, P... OMIM:606854
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Gastroesophageal reflux, Failure to thrive, Intrauterine growth retardation, Micro... OMIM:612940
Warburg Micro Syndrome 1
Cryptorchidism, Enlarged sylvian cistern, Hypoplasia of the corpus callosum, Cerebral atrophy, Sh... OMIM:600118
Neurodevelopmental Disorder With Involuntary Movements
Dysphagia, Ventriculomegaly, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly OMIM:617493
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Enterov... OMIM:307200
Familial Afibrinogenemia
Abnormal bleeding, Cerebral hemorrhage, Epistaxis, Gingival bleeding ORPHA:98880
Cornelia De Lange Syndrome 2
Ventriculomegaly, Gastroesophageal reflux, Postnatal growth retardation, Short stature, Intrauter... OMIM:300590
Nasu-Hakola Disease
Ventriculomegaly, Cerebral cortical atrophy, Functional abnormality of the gastrointestinal tract... ORPHA:2770
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Congestive heart failure, Hydrocephalus, Macrotia OMIM:300886
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Microretrognathia, Abnormality of the pinna, Wide nasal bridge, Hydrocephalus, Microtia OMIM:613603
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly... OMIM:615287
Fusariosis
Peritonitis, Pulmonary opacity, Bronchiectasis, Maculopapular exanthema, Pneumonia, Sinusitis, My... ORPHA:228119
Craniofacial Dyssynostosis
Underdeveloped nasal alae, Hypoplasia of the corpus callosum, Wide nasal bridge, Micrognathia, Hy... ORPHA:1516
Severe Hemophilia A
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... ORPHA:169802
Neuronal Intranuclear Inclusion Disease
Increased CSF protein, Ventriculomegaly, Leukoencephalopathy, CSF pleocytosis OMIM:603472
Juvenile Huntington Disease
Neuronal loss in basal ganglia, Ventriculomegaly, Weight loss, Abnormal cerebral white matter mor... ORPHA:248111
Maternal Uniparental Disomy Of Chromosome 1
Ventriculomegaly, Gastroesophageal reflux, Growth delay, Failure to thrive, Short stature ORPHA:251009
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Simplified gyral pattern, ... OMIM:615760
Cerebral Visual Impairment
Ischemic stroke, Intracranial hemorrhage, Abnormal cerebral white matter morphology, Abnormal cer... ORPHA:447788
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Mucopolysaccharidosis Type 1
Apnea, Cough, Chronic otitis media, Recurrent respiratory infections, Hearing impairment, Sensori... ORPHA:579
+173470 integrin, beta-3
Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis, Meno... OMIM:173470
Tenorio Syndrome
Cavum septum pellucidum, Apnea, Ventriculomegaly, Mandibular prognathia, Stomatitis, Pneumonia, C... OMIM:616260
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Conductive hearing impairment, Choanal atresia, Respiratory insufficiency, Malar f... ORPHA:93262
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the pons, Dysphagia, Increased CSF lactate, Ventriculomegaly, Gastroesophageal refl... ORPHA:500144
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Chronic sinusitis, Recurrent vulvovaginal candidiasis, Otitis ... ORPHA:331235
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Spontaneous he... ORPHA:774
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Pneumonia, Sinusitis, Myocarditis, Shock, Myositis, Osteomyelitis, Respir... ORPHA:36234
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Conductive hearing impairment, Posit... ORPHA:94080
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis... OMIM:273800
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dysphagia, Ventriculomegaly, Hypoplasia of the corpus callosum, Cerebral atrophy, Hyperintensity ... ORPHA:500180
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum, Failure to thrive OMIM:618276
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Ventriculomegaly OMIM:206570
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Short nose, Anterior hypopituitarism, Pulmonary hypoplasia, Micrognathia,... OMIM:241800
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Short nose, Macrotia, Low-set, posteriorly rotated ears, Pulmonic stenosis, Hearin... ORPHA:2701
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Secondary microcephaly, Hydrocephalus ORPHA:397951
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, High palate, Mi... OMIM:618354
Cerebral Amyloid Angiopathy, App-Related
Recurrent cerebral hemorrhage, Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebra... OMIM:605714
Narp Syndrome
Ventriculomegaly, Cerebral cortical atrophy, Corticospinal tract atrophy, Short stature, Abnormal... ORPHA:644
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Microcephaly, Ventriculomegaly, Severe short stature ORPHA:2643
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Ventriculomegaly, Neuronal loss in the cerebral cortex, Microcephaly, Cerebral hypopl... ORPHA:168486
Goldberg-Shprintzen Megacolon Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Aganglionic megacolon, Short sta... ORPHA:66629
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Cryptorchidism, Macroglossia, Hypoplasia of the corpus callosum, Ventriculomeg... OMIM:300354
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hypoplasia of the corpus callosum, Ventriculomegaly, Decreased body weight, Cleft palate, Bifid u... OMIM:300958
Complement Factor I Deficiency
Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Glomerulonephritis, Recurrent strept... OMIM:610984
Leukoencephalopathy, Cystic, Without Megalencephaly
Ventriculomegaly, Cerebral calcification, Leukoencephalopathy, Microcephaly, Focal white matter l... OMIM:612951
Crouzon Syndrome With Acanthosis Nigricans
Choanal atresia, Hydrocephalus OMIM:612247
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he... ORPHA:325
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Ventriculomegaly, Abnormal cerebral white matter morphology, Truncal obesity, Sma... OMIM:300957
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ventriculomegaly, Secondary microcephaly OMIM:613730
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Abnormal auditory evoked potentials, Sensorineural hearing impai... OMIM:109120
Pituitary Deficiency Due To Rathke Cleft Cysts
Panhypopituitarism, Abnormality of the sphenoid sinus, Hydrocephalus, Anterior hypopituitarism, I... ORPHA:91350
X-Linked Lissencephaly With Abnormal Genitalia
Cryptorchidism, Pachygyria, Ventriculomegaly, Aganglionic megacolon, Microcephaly, Malabsorption,... ORPHA:452
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Hypertension, Exertional dyspnea OMIM:133100
Snakebite Envenomation
Cardiogenic shock, Ecchymosis, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Epistaxis... ORPHA:449285
Glycosylphosphatidylinositol Biosynthesis Defect 17
High palate, Growth delay, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Microhydranencephaly
Hypoplasia of the brainstem, Pachygyria, Ventriculomegaly, Hydranencephaly, Short stature, Microc... OMIM:605013
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Microcephaly, Ventriculomegaly OMIM:619150
Baraitser-Winter Syndrome 2
Pachygyria, Ventriculomegaly, Short stature, Secondary microcephaly, Agenesis of corpus callosum,... OMIM:614583
Cyclic Neutropenia
Peritonitis, Respiratory tract infection, Periodontitis, Tooth abscess, Perianal abscess, Sinusit... ORPHA:2686
Cornelia De Lange Syndrome 5
Cryptorchidism, Ventriculomegaly, Gastroesophageal reflux, Decreased testicular size, Postnatal g... OMIM:300882
Carey-Fineman-Ziter Syndrome
Cryptorchidism, Hypoplasia of the brainstem, Dysphagia, Ventriculomegaly, Gastroesophageal reflux... OMIM:254940
Shashi-Pena Syndrome
Ventriculomegaly OMIM:617190
Congenital Muscular Dystrophy, Fukuyama Type
Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Ventriculomegaly, Intrauterine ... ORPHA:272
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension ORPHA:84090
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Cortical dysplasia, Microcephaly ORPHA:457260
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Ventriculomegaly, Short stature OMIM:611555
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Pseudobulbar paralysis, Agenesis of corpus callosum, Ventriculomegal... OMIM:618651
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Ventriculomegaly, Intrauterine growth retardation, Microcephaly, Disproportionate... ORPHA:2772
Noonan Syndrome 12
Ventriculomegaly, Anteriorly placed anus, Decreased response to growth hormone stimuation test OMIM:618624
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:618381
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Recurrent respiratory infections, Arthritis OMIM:300310
Microcephaly 27, Primary, Autosomal Dominant
Cryptorchidism, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Primary microceph... OMIM:619180
Cocaine Intoxication
Ventricular arrhythmia, Wheezing, Cough, Cerebral hemorrhage, Pulmonary edema, Respiratory distre... ORPHA:90068
1Q44 Microdeletion Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Growth delay, Intestinal malrotation, Short statur... ORPHA:238769
Bresek Syndrome
Cryptorchidism, Growth delay, Aganglionic megacolon, Neonatal death, Cleft palate, Intrauterine g... ORPHA:85284
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology, Short stature OMIM:615280
Immunodeficiency 15A
Cutaneous abscess, Recurrent otitis media, Recurrent sinusitis, Chronic mucocutaneous candidiasis... OMIM:618204
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Enteroviral hepatitis, Conjunct... OMIM:300755
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Sleep apnea, Hydrocephalus, Hypoplasia of the corpus callosum, Megalencephaly, Central apnea, Hea... OMIM:616482
Weiss-Kruszka Syndrome
Agenesis of corpus callosum, Short nose, Overfolded helix, Hypoplasia of the corpus callosum, Ven... OMIM:618619
Mosaic Trisomy 1
Microretrognathia, Abnormality of the pinna, Wide nasal bridge, Polymicrogyria, Pulmonary hypopla... ORPHA:1692
Curry-Jones Syndrome
Anal stenosis, Ventriculomegaly, Megalencephaly, Intestinal malrotation, Polymicrogyria, Hemimega... OMIM:601707
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Macroglossia, Abnormal periventricular white matter morphology, Extra-axial cerebrospinal fluid a... OMIM:616900
Mental Retardation, Buenos Aires Type
Carious teeth, Mandibular prognathia, Wide nasal bridge, Protruding ear, Prominent nose, Microcep... OMIM:249630
Microcephaly 26, Primary, Autosomal Dominant
Pachygyria, Extra-axial cerebrospinal fluid accumulation, Hypoplasia of the corpus callosum, Vent... OMIM:619179
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Ventriculomegaly, Cleft palate, Intrauterine growth retardation, Partial... OMIM:619074
Spastic Paraplegia 75, Autosomal Recessive
Ventriculomegaly, Corpus callosum atrophy OMIM:616680
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Ventriculomegaly, High, narrow palate, Cerebral atrophy OMIM:617268
Pierpont Syndrome
Cryptorchidism, Ventriculomegaly, Primary microcephaly, Abnormal cortical gyration, Small for ges... ORPHA:487825
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ventriculomegaly, Cachexia, Cerebral calcification, Short stature, Microcephaly ORPHA:1933
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Lissencephaly, X-Linked, 2
Pachygyria, Ventriculomegaly, Decreased testicular size, High palate, Agenesis of corpus callosum... OMIM:300215
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Ventriculomegaly, Respiratory insufficiency, Hearing impairment, Aplasia/Hypop... ORPHA:93274
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Abnormality of the septum pellucidum, Short nose, Cerebral atrophy, Malar flattening, Laryngomala... ORPHA:171839
Vitamin K Antagonist Embryofetopathy
Short nose, Choanal atresia, Respiratory insufficiency, Hearing impairment, Myelomeningocele, Ant... ORPHA:1914
Glutaryl-Coa Dehydrogenase Deficiency
Open operculum, Abnormal caudate nucleus morphology, Pallidal degeneration, Ventriculomegaly, Abn... ORPHA:25
Caribbean Parkinsonism
T2 hypointense basal ganglia, Cerebral cortical atrophy, Ventriculomegaly, Midline brain calcific... ORPHA:97355
Nephronophthisis 18
Tubulointerstitial nephritis, Hydrocephalus OMIM:615862
Xfe Progeroid Syndrome
Microcephaly, Ventriculomegaly, Cachexia, Severe short stature OMIM:610965
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Mitochondrial Complex I Deficiency, Nuclear Type 37
Corpus callosum atrophy, Increased CSF lactate, Ventriculomegaly, Cerebral atrophy, Growth delay,... OMIM:619272
Mental Retardation, Autosomal Dominant 21
Cryptorchidism, Ventriculomegaly, Short stature, Cleft palate, Microcephaly OMIM:615502
Plasminogen Deficiency, Type I
Hydrocephalus, Recurrent upper respiratory tract infections, Periodontitis, Abnormality of the la... OMIM:217090
Lissencephaly 6 With Microcephaly
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Simplified gyral... OMIM:616212
Acromelic Frontonasal Dysostosis
Cryptorchidism, Choroid plexus cyst, Hypoplasia of the corpus callosum, Ventriculomegaly, Hypopit... OMIM:603671
Granulomatosis With Polyangiitis
Skin rash, Pleuritis, Pericarditis, Cough, Respiratory insufficiency, Sensorineural hearing impai... ORPHA:900
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Macroglossia, Hypoplasia of the brainstem, Agenesis of corpus... ORPHA:370959
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Polymicrogyria, Protruding ear, Microcephaly, Anteverted nares, Colpocephaly OMIM:618731
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Dilation of lateral ventricles, Recurrent pneumonia OMIM:612301
49,Xxxyy Syndrome
Increased circulating gonadotropin level, Abnormality of the testis size, Ventriculomegaly, Abnor... ORPHA:261534
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Macroglossia, Lissencephaly, Intrauterine growth retardation, Protruding tongue, ... OMIM:612938
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Bulbous nose, Mandibular prognathia, Wide nasal bridge, Malar ... ORPHA:2180
Developmental And Epileptic Encephalopathy 65
Microcephaly, Ventriculomegaly, Cerebral atrophy OMIM:618008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Macroglossia, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral corti... OMIM:613156
6P22 Microdeletion Syndrome
Hearing impairment, Hydrocephalus, Overfolded helix ORPHA:251046
Coach Syndrome 2
Apneic episodes in infancy, Agenesis of corpus callosum, Hydrocephalus, Hypertension OMIM:619111
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Cerebral cortical atrophy, Ventriculomegaly, Short stature ORPHA:48431
Radial Aplasia, X-Linked
Anal atresia, Hydrocephalus OMIM:312190
Crouzon Disease
Narrow internal auditory canal, Conductive hearing impairment, Choanal atresia, Respiratory insuf... ORPHA:207
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Orofaciodigital Syndrome Xvii
Decreased body weight, Ventriculomegaly, High, narrow palate, Short stature OMIM:617926
Spondyloenchondrodysplasia
Skin rash, Delayed eruption of teeth, Abnormal periventricular white matter morphology, Ventricul... ORPHA:1855
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus, Wide nasal bridge ORPHA:380
Thanatophoric Dysplasia
Ventriculomegaly, Respiratory insufficiency, Hearing impairment, Pulmonary hypoplasia, Hydrocepha... ORPHA:2655
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Cleft palate, Intrauterine growth re... OMIM:611134
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Hypoplasia of the corpus callosum, Ventriculomegaly, Gastroesophageal reflux, Abn... ORPHA:485350
Cog8-Cdg
Ventriculomegaly, Protein-losing enteropathy, Failure to thrive, Atrophy/Degeneration affecting t... ORPHA:95428
Edinburgh Malformation Syndrome
Short nose, Choanal atresia, Respiratory insufficiency, Micrognathia, Anteverted nares, Hydroceph... ORPHA:1895
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Decreased body weight, Short stature, Intrauterine growth... OMIM:609053
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Micrognathia, Hydrocephalus OMIM:617866
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Increased CSF lactate, Ventriculomegaly, Microcephaly, Short stature OMIM:619059
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Epistaxis, B... OMIM:613225
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Ventriculomegaly, Frontal cortical atrophy ORPHA:206559
Williams-Beuren Region Duplication Syndrome
Overfolded helix, Hypoplasia of the corpus callosum, Ventriculomegaly, Chronic otitis media, Broa... OMIM:609757
Wiskott-Aldrich Syndrome
Intracranial hemorrhage, Sinusitis, Eczema, Otitis media, Purpura, Epistaxis, Sudden cardiac deat... ORPHA:906
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Meningioma
Abnormality on pulmonary function testing, Focal T2 hypointense thalamic lesion, Hydrocephalus, E... ORPHA:2495
Mend Syndrome
Microretrognathia, Aortic valve stenosis, Prominent nasal bridge, Hydrocephalus, Dandy-Walker mal... OMIM:300960
Mental Retardation, Autosomal Dominant 36
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Anteverted nares, Hydrocephalus OMIM:616362
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Small basal ganglia,... ORPHA:88639
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Intrauterine growth retardation, Cerebral cortical atrophy, Obesit... ORPHA:177907
Amoebiasis Due To Free-Living Amoebae
Pustule, Respiratory tract infection, Arrhythmia, Abnormal hypothalamus morphology, Abnormal cere... ORPHA:68
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the lungs, Hydrocephalus, Depressed nasa... ORPHA:2635
Amish Lethal Microcephaly
Spina bifida, Ventriculomegaly, Cleft soft palate, Microcephaly, Agenesis of corpus callosum, Lis... ORPHA:99742
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Pachygyria, Ventriculomegaly, Abnormal cerebral white matter morphology, Microcephaly OMIM:606612
Abeta Amyloidosis, Dutch Type
Cerebral hemorrhage, Cerebral calcification, Cerebral amyloid angiopathy, Stroke ORPHA:100006
Krabbe Disease