Gene: Ulk4 MGI:1921622

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Human diseases associated with Ulk4 (0 diseases)
Human diseases predicted to be associated with Ulk4 (1346 diseases)

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	Matching phenotypes	Source
Microcephaly 19, Primary, Autosomal Recessive	Decreased body weight, Microcephaly, Hypoplasia of the corpus callosum, Extra-axial cerebrospinal...	OMIM:617800
Cortical Dysplasia, Complex, With Other Brain Malformations 5	Cortical dysplasia, Hypoplasia of the corpus callosum, Ventriculomegaly, Simplified gyral pattern...	OMIM:615763
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Corticospinal tract hypoplasia, Age...	OMIM:307000
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Small cerebral cortex, Microcephaly, Abnormal cerebral morphology, Ventriculomegaly, Abnormal cer...	ORPHA:329228
Ciliary Dyskinesia With Excessively Long Cilia	Sinusitis, Airway obstruction, Nasal polyposis, Chronic rhinitis, Abnormal respiratory motile cil...	OMIM:242680
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Megalencephaly, Hydrocephalus, Ventriculomegaly, Polymicrogyria	OMIM:615938
Familial Nasal Acilia	Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Abnormal re...	ORPHA:922
Porencephaly	Porencephalic cyst, Ventriculomegaly	ORPHA:2940
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum, Absent septum...	ORPHA:2182
Ciliary Dyskinesia, Primary, 9	Chronic otitis media, Neonatal respiratory distress, Cough, Chronic rhinitis, Recurrent sinusitis...	OMIM:612444
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Cortical dysplasia, Hypoplasia...	ORPHA:300573
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive	Enlarged sylvian cistern, Perisylvian polymicrogyria	OMIM:615752
Cerebral Palsy, Spastic Quadriplegic, 2	Cerebral atrophy, Ventriculomegaly	OMIM:612900
Ciliary Dyskinesia, Primary, 6	Sinusitis, Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia...	OMIM:610852
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Ciliary Dyskinesia, Primary, 34	Absent central microtubular pair morphology of respiratory motile cilia, Chronic rhinitis, Reduce...	OMIM:617091
Megalencephaly, Autosomal Dominant	Megalencephaly, Hydrocephalus	OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalence...	OMIM:615937
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Absent central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, Rec...	OMIM:620032
Ciliary Dyskinesia, Primary, 28	Dynein arm defect of respiratory motile cilia, Respiratory insufficiency due to defective ciliary...	OMIM:615505
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Ciliary Dyskinesia, Primary, 12	Chronic pulmonary obstruction, Abnormal central microtubular pair morphology of respiratory motil...	OMIM:612650
Ciliary Dyskinesia, Primary, 10	Chronic otitis media, Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Ciliary...	OMIM:612518
Vacterl Association With Hydrocephalus	Anal atresia, Hydrocephalus, Stillbirth, Aqueductal stenosis	OMIM:276950
Chudley-Mccullough Syndrome	Hydrocephalus, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Polymicrogyria, Par...	OMIM:604213
Ciliary Dyskinesia, Primary, 11	Abnormal central microtubular pair morphology of respiratory motile cilia, Chronic rhinitis, Recu...	OMIM:612649
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Diffuse swelling of cerebral white matter, Cerebral atrophy, Megalencephaly, Ventriculomegaly, Dy...	OMIM:613925
Ciliary Dyskinesia, Primary, 17	Cough, Chronic rhinitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Chron...	OMIM:614679
Lissencephaly 4	Growth delay, Short stature, Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpo...	OMIM:614019
Hydrocephalus With Cerebellar Agenesis	Hydrocephalus	OMIM:307010
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Hypoplasia of the pons, Hypoplasia of the corpus callosum, Thick cerebral cortex, Lissencephaly, ...	OMIM:618677
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon	ORPHA:275543
Arnold-Chiari Malformation Type Ii	Myelomeningocele, Brain stem compression, Hydrocephalus, Aqueductal stenosis, Cortical dysplasia,...	ORPHA:1136
Lissencephaly 1	Abnormal cerebral white matter morphology, Agyria, Lissencephaly, Ventriculomegaly, Subcortical b...	OMIM:607432
Ciliary Dyskinesia, Primary, 16	Absent outer dynein arms, Pulmonary insufficiency, Chronic otitis media, Chronic rhinitis, Chroni...	OMIM:614017
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Microcephaly, Cerebral atrophy, Ventriculomegaly	OMIM:617051
Bowen-Conradi Syndrome	Severe intrauterine growth retardation, Short stature, Severe postnatal growth retardation, Micro...	ORPHA:1270
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation, Cortical dysplasia, Thick cerebral cortex, Cerebral hypoplasia	ORPHA:101071
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebral atrophy, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Lissencephaly,...	OMIM:618730
Ciliary Dyskinesia, Primary, 14	Otitis media, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile cili...	OMIM:613807
Fanconi Anemia, Complementation Group R	Anal atresia, Hydrocephalus, Microcephaly, Growth delay	OMIM:617244
Bonnemann-Meinecke-Reich Syndrome	Decreased response to growth hormone stimulation test, Short stature, Cerebral calcification, Mic...	ORPHA:1261
X-Linked Parkinsonism-Spasticity Syndrome	Diffuse cerebral atrophy, Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Subcortical cerebral atrophy, Hydrocephalus, Cerebral cortical atrophy, Cerebral cortical hemiatr...	ORPHA:2703
Pyruvate Dehydrogenase E1-Alpha Deficiency	Abnormal CSF pyruvate family amino acid concentration, Basal ganglia necrosis, Intrauterine growt...	ORPHA:79243
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis, C...	OMIM:618699
Ciliary Dyskinesia With Defective Radial Spokes	Sinusitis, Nasal polyposis, Chronic rhinitis, Ciliary dyskinesia, Abnormal respiratory system phy...	OMIM:242670
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Cerebral cortical atrophy, Short stature, Microcephaly, Ventriculomegaly, Cerebral white matter h...	ORPHA:3207
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Ventriculomegaly, Mild mal...	ORPHA:500166
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Moderate Hemophilia A	Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,...	ORPHA:169805
Reversible Cerebral Vasoconstriction Syndrome	Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac...	ORPHA:284388
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis	Aqueductal stenosis, Ventriculomegaly	OMIM:600907
Ciliary Dyskinesia, Primary, 13	Absent inner dynein arms, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurren...	OMIM:613193
Band Heterotopia	Hydrocephalus, Polymicrogyria, Ventriculomegaly, Subcortical band heterotopia, Agenesis of corpus...	OMIM:600348
Ciliary Dyskinesia, Primary, 15	Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Cough, Wheezi...	OMIM:613808
Microlissencephaly	Cerebral dysmyelination, Cerebral cortical atrophy, Microcephaly, Polymicrogyria, Hypoplasia of t...	ORPHA:1083
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Microcephaly, Cortical dysplasia, Ventriculomegaly, Abnormal corpus callosum morph...	OMIM:618709
Ciliary Dyskinesia, Primary, 1	Conductive hearing impairment, Nasal polyposis, Chronic otitis media, Communicating hydrocephalus...	OMIM:244400
Combined Oxidative Phosphorylation Deficiency 39	Increased CSF lactate, Microcephaly, Ventriculomegaly, Simplified gyral pattern, Pachygyria, Intr...	OMIM:618397
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Cerebral calcification, Intrauterine growth retardation, Aqueductal stenosis	ORPHA:3035
Microcephaly 5, Primary, Autosomal Recessive	Short stature, Small cerebral cortex, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus ...	OMIM:608716
Corpus Callosum Agenesis-Neuronopathy Syndrome	Microcephaly, Agenesis of corpus callosum, Aqueductal stenosis	ORPHA:1496
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebral cortical atrophy, Short stature, Hypoplasia of the corpus callosum, Atrophy/Degeneration...	OMIM:617862
16P13.2 Microdeletion Syndrome	Failure to thrive, Hydrocephalus, Gastroesophageal reflux, Short stature, Dilated third ventricle...	ORPHA:500055
Ciliary Dyskinesia, Primary, 40	Reduced forced expiratory volume in one second, Azoospermia, Cough, Chronic rhinitis, Congenitall...	OMIM:618300
Masa Syndrome	Agenesis of corpus callosum, Ventriculomegaly, Short stature	ORPHA:2466
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Micrognathia, Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Agyria, Pachygyria, Ventriculomegaly	ORPHA:1084
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Lissencephaly 3	Microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Lissencephaly, Ventricul...	OMIM:611603
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Primary microcephaly, Agenesis of corpus callosum, Ventriculomegaly, Polymicrogyria	ORPHA:171703
Microcephaly 17, Primary, Autosomal Recessive	Failure to thrive, Short stature, Microcephaly, Ventriculomegaly, Simplified gyral pattern, Micro...	OMIM:617090
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	High palate, Leukoencephalopathy, Cerebral atrophy, Dilated third ventricle, Microcephaly, Corpus...	OMIM:619244
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal CSF pyruvate family amino acid concentration, Failure to thrive, Abnormal basal ganglia ...	ORPHA:255182
Olivopontocerebellar Atrophy-Deafness Syndrome	Cerebral cortical atrophy, Ventriculomegaly	ORPHA:2732
Ciliary Dyskinesia, Primary, 38	Conductive hearing impairment, Chronic otitis media, Cough, Chronic sinusitis, Neonatal respirato...	OMIM:618063
Microphthalmia-Brain Atrophy Syndrome	Abnormal pons morphology, Microcephaly, Corpus callosum atrophy, Atrophy/Degeneration affecting t...	ORPHA:77299
Microcephaly, Seizures, And Developmental Delay	Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Progressive microcephaly, Simp...	OMIM:613402
Galloway-Mowat Syndrome	Hiatus hernia, Aqueductal stenosis, Short stature, Microcephaly, Pachygyria, Intrauterine growth ...	ORPHA:2065
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum, Rhizomelia	OMIM:166990
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Polymicrogyria, Bilateral Temporooccipital	Ventriculomegaly, Polymicrogyria	OMIM:612691
Ciliary Dyskinesia, Primary, 20	Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary...	OMIM:615067
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cerebral cortical atr...	ORPHA:488627
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Progressive microcephaly, Hypo...	OMIM:616486
Alg2-Cdg	Abnormal basal ganglia MRI signal intensity, Microcephaly, Hypoplasia of the corpus callosum, Lat...	ORPHA:79326
Ciliary Dyskinesia, Primary, 26	Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Recu...	OMIM:615500
Pineocytoma	Hydrocephalus, Increased CSF protein	ORPHA:251912
Slc35A2-Cdg	Gastroesophageal reflux, Cerebral atrophy, Short stature, Microcephaly, Cortical dysplasia, Hypop...	ORPHA:356961
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elongated superior cerebellar peduncle, Failure to thrive, Abnormal basal ganglia morphology, Gas...	ORPHA:397715
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hearing impairment, Hydrocephalus, Periodontitis	ORPHA:1008
Developmental And Epileptic Encephalopathy 54	Microcephaly, Ventriculomegaly	OMIM:617391
Autosomal Dominant Non-Syndromic Intellectual Disability	Leukoencephalopathy, Gastroesophageal reflux, Cerebral atrophy, Short stature, Microcephaly, Hypo...	ORPHA:178469
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Ventriculomegaly	OMIM:619501
Ciliary Dyskinesia, Primary, 18	Respiratory insufficiency due to defective ciliary clearance, Absent outer dynein arms, Respirato...	OMIM:614874
Bilateral Generalized Polymicrogyria	Gastroesophageal reflux, Short stature, Microcephaly, Hypoplasia of the corpus callosum, Lateral ...	ORPHA:208447
Hemiparkinsonism-Hemiatrophy Syndrome	Neonatal asphyxia, Lateral ventricle dilatation	ORPHA:306669
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Cryptorchidism, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:1568
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Lissencephaly, Primary microceph...	ORPHA:284417
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Cerebral cortical atrophy, Microcephaly, Hypoplasia of the pons, Ventriculomegaly, Dysphagia, Age...	OMIM:617669
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Thick corpus callosum, Dysplastic corpus callosum, Dilated third ventricle, Large for gestational...	ORPHA:544488
Intellectual Developmental Disorder, Autosomal Recessive 69	Microcephaly, Ventriculomegaly	OMIM:618383
Holoprosencephaly 14	Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Cleft palate, Holoprosencephaly, Mi...	OMIM:619895
Severe X-Linked Intellectual Disability, Gustavson Type	Small for gestational age, Severe postnatal growth retardation, Microcephaly, Dilated fourth vent...	ORPHA:3078
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	Hydrocephalus, Agenesis of corpus callosum, Meckel diverticulum	OMIM:300864
Alg13-Cdg	Abnormal lateral ventricle morphology, Decreased body weight	ORPHA:324422
Masa Syndrome	Hydrocephalus, Short stature, Microcephaly, Ventriculomegaly, Agenesis of corpus callosum	OMIM:303350
Primary Ciliary Dyskinesia	Double outlet right ventricle, Conductive hearing impairment, Hydrocephalus, Anomalous pulmonary ...	ORPHA:244
Cach Syndrome	Abnormal pons morphology, Dysgyria, Cerebral atrophy, Microcephaly, T2 hypointense thalamus, Atro...	ORPHA:135
Combined Immunodeficiency, X-Linked	Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media	OMIM:312863
Pfeiffer Syndrome Type 2	High palate, Anal atresia, Hydrocephalus, Aqueductal stenosis, Cleft palate, Intestinal malrotation	ORPHA:93259
Atypical Teratoid Rhabdoid Tumor	Cerebral calcification, Hydrocephalus	ORPHA:99966
Combined Oxidative Phosphorylation Defect Type 39	Intrauterine growth retardation, Increased CSF lactate, Cerebral atrophy, Microcephaly, Corpus ca...	ORPHA:565624
Brain Small Vessel Disease 2	Intracranial hemorrhage, Ventriculomegaly	OMIM:614483
Familial Cervical Artery Dissection	Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebr...	ORPHA:36382
Ciliary Dyskinesia, Primary, 21	Recurrent otitis media, Chronic sinusitis, Recurrent pneumonia, Ciliary dyskinesia, Neonatal resp...	OMIM:615294
Bilateral Striopallidodentate Calcinosis	Cerebral calcification, Microcephaly, Intrauterine growth retardation, Ventriculomegaly	ORPHA:1980
X-Linked Intellectual Disability, Wilson Type	Hydrocele testis, Lateral ventricle dilatation, Microcephaly, Growth delay	ORPHA:85290
Malan Overgrowth Syndrome	High palate, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Ventriculomegaly, H...	ORPHA:420179
Multiple Mitochondrial Dysfunctions Syndrome 5	Growth delay, Microcephaly, Ventriculomegaly, Pachygyria	OMIM:617613
Hemophilia A	Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem...	ORPHA:98878
Dandy-Walker Syndrome	Hydrocephalus, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle	OMIM:220200
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Hypoplasia of the corpus callosum, Abnormal caudate nucleus morphology, Cerebral white matter atr...	ORPHA:2148
Vacterl With Hydrocephalus	Anal atresia, Hydrocephalus, Intrauterine growth retardation, Aqueductal stenosis, Tracheoesophag...	ORPHA:3412
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Cerebral hypoplasia, Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:617977
Yoon-Bellen Neurodevelopmental Syndrome	High palate, Failure to thrive, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum...	OMIM:619701
Epilepsy, Pyridoxine-Dependent	Neonatal respiratory distress, Hydrocephalus	OMIM:266100
Dural Sinus Malformation	Hydrocephalus, Pulsatile tinnitus, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral h...	ORPHA:97339
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Obesity, Dilated third ventricle, Cerebral atrophy	OMIM:617296
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Nasal polyposis, Otitis media, Ciliary dyskinesia, Bronchiectasi...	OMIM:606763
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Congenital Hydrocephalus	Hydrocephalus, Small cerebral cortex, Abnormal cortical gyration, Lissencephaly, Ventriculomegaly...	ORPHA:2185
Acrofacial Dysostosis, Rodríguez Type	Intrauterine growth retardation, Aqueductal stenosis, Arrhinencephaly	ORPHA:1788
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Microcephaly, Dilated third ventricle, Abnormal periventricular white matter morphology	OMIM:619725
Ciliary Dyskinesia, Primary, 27	Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Recu...	OMIM:615504
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Increased CSF lactate, Cerebral hemorrhage, ST segment depression, Hyperglycorrhac...	ORPHA:90065
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum, Ventricul...	ORPHA:85179
Gabriele-De Vries Syndrome	Abnormal cerebral white matter morphology, Cryptorchidism, Intrauterine growth retardation, Ventr...	OMIM:617557
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9	Short stature, Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, ...	ORPHA:262767
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Hyperintensity of cerebral white matter on MRI, Cerebral dysmyelination, Ventriculomegaly, Increa...	OMIM:611722
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Abnormal respiratory motile cilium morphology, Ciliary dyskinesia	OMIM:215520
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum, Hypoplasia...	ORPHA:250972
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration	Cerebral calcification, Decreased response to growth hormone stimulation test, Severe short statu...	OMIM:225755
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness	High-frequency hearing impairment, Recurrent bronchitis, Chronic sinusitis, Otitis media	OMIM:300455
Ciliary Dyskinesia, Primary, 24	Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis	OMIM:615481
Edinburgh Malformation Syndrome	Failure to thrive, Hydrocephalus	OMIM:129850
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Decreased response to growth hormone stimulation test, Azoospermia, Retrogna...	ORPHA:280679
Ciliary Dyskinesia, Primary, 45	Chronic rhinitis, Absent inner and outer dynein arms, Immotile cilia, Bronchiectasis	OMIM:618801
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	High palate, Abnormal basal ganglia morphology, Small basal ganglia, Normal pressure hydrocephalu...	ORPHA:300570
Alexander Disease	High palate, Failure to thrive, Hydrocephalus, Aqueductal stenosis, Cerebral calcification, Megal...	ORPHA:58
Immunodeficiency 51	Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio...	OMIM:613953
Ciliary Dyskinesia, Primary, 30	Asthma, Respiratory insufficiency due to defective ciliary clearance, Respiratory insufficiency, ...	OMIM:616037
Wars2-Related Combined Oxidative Phosphorylation Defect	High palate, Leukoencephalopathy, Cerebral atrophy, Dilated fourth ventricle, Lateral ventricle d...	ORPHA:572798
Pfeiffer Syndrome Type 1	High palate, Aqueductal stenosis	ORPHA:93258
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Skin rash	ORPHA:26
Epilepsy, Progressive Myoclonic, 9	Microglossia, Ventriculomegaly	OMIM:616540
Congenital Factor Xiii Deficiency	Joint hemorrhage, Abnormal umbilical stump bleeding, Cerebral hemorrhage, Persistent bleeding aft...	ORPHA:331
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Short stature, Microcephaly, Ventriculomegaly, Intrauterine growth retardation	ORPHA:2515
Immunodeficiency 32B	Bronchiectasis, Sinusitis, Pneumonia	OMIM:226990
Autosomal Recessive Spastic Paraplegia Type 11	Cerebral cortical atrophy, Frontal cortical atrophy, Hypoplasia of the corpus callosum, Focal T2 ...	ORPHA:2822
Aneurysm, Intracranial Berry, 12	Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar...	OMIM:618734
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Decreased response to growth hormone stimulation test, Retrognathia, Moyamoy...	OMIM:300845
Spermatogenic Failure 38	Coiled sperm flagella, Abnormal axonemal organization of respiratory motile cilia, Oligospermia, ...	OMIM:618433
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Slender build, Frontal cortical atrophy, Ventriculomegaly, Short stature	OMIM:300699
Developmental And Epileptic Encephalopathy 97	Ventriculomegaly	OMIM:619561
Pfeiffer Syndrome Type 3	High palate, Anal atresia, Aqueductal stenosis, Cleft palate, Intestinal malrotation	ORPHA:93260
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Hydrolethalus Syndrome 2	Hydrocephalus, Cleft palate, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of ...	OMIM:614120
Mehmo Syndrome	Decreased response to growth hormone stimulation test, Cleft palate, Small for gestational age, M...	OMIM:300148
Corpus Callosum, Partial Agenesis Of, X-Linked	Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus, Aganglionic megacolon	OMIM:304100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hydrocephalus, Hypoplasia of the pons, Type II lissencephaly, Ventriculomegaly, Dandy-Walker malf...	OMIM:613154
Pseudo-Torch Syndrome 2	Acute respiratory distress syndrome, Petechiae, Cerebral hemorrhage, Respiratory insufficiency, P...	OMIM:617397
Catel-Manzke Syndrome	Failure to thrive, Cleft palate, Short stature, Glossoptosis, Ventriculomegaly	ORPHA:1388
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Asthma, Sinusitis, Recurrent upper and lower respiratory tract infections, Otitis media, Atopic d...	ORPHA:70593
Hsd10 Disease	Focal white matter lesions, Microcephaly, Ventriculomegaly, Dysphagia, Postnatal growth retardati...	ORPHA:391417
Temple Syndrome	Hydrocephalus, Postnatal growth retardation, Decreased response to growth hormone stimulation tes...	ORPHA:254516
Cleft Lip With Or Without Cleft Palate	Hearing impairment, Chronic sinusitis, Recurrent otitis media	ORPHA:1991
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Growth delay, Abnormal lateral ventricle morphology, Intrauterine growth retardation, Hypoplasia ...	ORPHA:488635
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage	OMIM:603284
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	High palate, Failure to thrive, Hydrocephalus, Elongated superior cerebellar peduncle, Aqueductal...	OMIM:619512
Abetal34V Amyloidosis	Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology	ORPHA:324703
1Q21.1 Microduplication Syndrome	Failure to thrive, Hydrocephalus, Gastroesophageal reflux, Cryptorchidism	ORPHA:250994
Riddle Syndrome	Otitis media, Intraventricular hemorrhage, Conjunctival telangiectasia, Arthritis, Recurrent sinu...	ORPHA:420741
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, High, narrow palate, Cleft palate, Cerebral atrophy, Cavum septum pellucidum, Dil...	ORPHA:464738
3-Hydroxyisobutyric Aciduria	Cerebral cortical atrophy, Cerebral calcification, Microcephaly, Ventriculomegaly, Intrauterine g...	ORPHA:939
Ciliary Dyskinesia, Primary, 19	Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Recurrent sinusiti...	OMIM:614935
Peroxisome Biogenesis Disorder 6A (Zellweger)	Pachygyria, Colpocephaly	OMIM:614870
Macdermot-Winter Syndrome	Microcephaly, Intrauterine growth retardation, Ventriculomegaly	OMIM:247990
Mucus Inspissation Of Respiratory Tract	Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction	OMIM:253240
Pettigrew Syndrome	Sensorineural hearing impairment, High-frequency hearing impairment, Hydrocephalus, Ventriculomeg...	OMIM:304340
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Gastroesophageal reflux, Short stature, Microcephaly, Hypoplasia of the corpus callosum, Ventricu...	ORPHA:1495
Ciliary Dyskinesia, Primary, 25	Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis...	OMIM:615482
Neurodevelopmental Disorder With Involuntary Movements	Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysphagia	OMIM:617493
Ciliary Dyskinesia, Primary, 35	Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis	OMIM:617092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Hydrocephalus, Ventriculomegaly	OMIM:614830
Aicardi Syndrome	Hiatus hernia, Hepatoblastoma, Cleft palate, Choroid plexus cyst, Cavum septum pellucidum, Dilate...	OMIM:304050
Autosomal Recessive Primary Microcephaly	Hypoplasia of the frontal lobes, Short stature, Microcephaly, Ventriculomegaly, Growth delay, Pac...	ORPHA:2512
Ciliary Dyskinesia, Primary, 22	Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Neonatal respirato...	OMIM:615444
Cog5-Cdg	High palate, Short stature, Microcephaly, Atrophy/Degeneration affecting the brainstem, Cerebral ...	ORPHA:263487
Developmental And Epileptic Encephalopathy 49	Hydrocephalus, Cerebral calcification, Microcephaly, Ventriculomegaly, Dandy-Walker malformation	OMIM:617281
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Abnormal respiratory motile cilium morphology, Ciliary dyskinesia	OMIM:225050
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Ventriculomegaly	OMIM:619323
Biemond Syndrome Ii	Hydrocephalus, Short stature	OMIM:210350
Spastic Paraplegia 47, Autosomal Recessive	High palate, Short stature, Microcephaly, Hypoplasia of the corpus callosum, Abnormal periventric...	OMIM:614066
Central Neurocytoma	Cerebral calcification, Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Wyburn-Mason Syndrome	Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h...	ORPHA:53719
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Failure to thrive, Hydrocephalus, High, narrow palate, Short stature, Dilated third ventricle, He...	OMIM:619575
Immune Thrombocytopenia	Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest...	ORPHA:3002
Orofaciodigital Syndrome Xv	Agenesis of corpus callosum, Ventriculomegaly, Lobulated tongue, Molar tooth sign on MRI	OMIM:617127
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Pulmonary embolism, Cerebral hemorrhage	OMIM:614514
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	High palate, Supernumerary nipple, Cavum septum pellucidum, Pyloric stenosis, Lateral ventricle d...	ORPHA:457279
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Sinusitis, Inflammatory abnormality of the skin, Pulmonary insufficiency, Recurrent upper respira...	ORPHA:277
Acrofacial Dysostosis 1, Nager Type	Hydrocephalus, Velopharyngeal insufficiency, Aqueductal stenosis, Cleft palate, Short stature, Mi...	OMIM:154400
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis, Nasal p...	OMIM:604571
Autosomal Recessive Spastic Paraplegia Type 53	Failure to thrive, Microcephaly, Cortical dysplasia, Ventriculomegaly	ORPHA:319199
Pyruvate Dehydrogenase E1-Beta Deficiency	Intrauterine growth retardation, Decreased body weight, Hypoplasia of the corpus callosum, Short ...	ORPHA:255138
Lissencephaly 5	Leukoencephalopathy, Hydrocephalus, Hypoplasia of the corpus callosum, Type II lissencephaly, Abn...	OMIM:615191
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hydrocephalus, Dysgyria, Type II lissencephaly, Abnormal cerebral white matter morphology, Occipi...	ORPHA:352682
Epilepsy, Early-Onset, Vitamin B6-Dependent	Secondary microcephaly, Ventriculomegaly	OMIM:617290
Developmental And Epileptic Encephalopathy 59	Ventriculomegaly	OMIM:617904
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebral atrophy, Abnormality of the cerebrospinal fluid, Dilated third ventricle, Atrophy/Degene...	ORPHA:314404
Achondroplasia	Conductive hearing impairment, Hydrocephalus, Malar flattening, Upper airway obstruction, Recurre...	OMIM:100800
Holoprosencephaly 5	High palate, Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Microce...	OMIM:609637
Leukoencephalopathy, Cystic, Without Megalencephaly	Leukoencephalopathy, Focal white matter lesions, Cerebral calcification, Microcephaly, Ventriculo...	OMIM:612951
2,4-Dienoyl-Coa Reductase Deficiency	Failure to thrive, Microcephaly, Cerebral atrophy, Ventriculomegaly	OMIM:616034
Fried Syndrome	High palate, Hydrocephalus, Cerebral calcification	ORPHA:85335
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Microcephaly, Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, ...	OMIM:225790
Developmental And Epileptic Encephalopathy 36	Abnormal bleeding, Low-set ears, Hydrocephalus, Microretrognathia	OMIM:300884
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Short stature, Hypoplasia of the corpus callosum, Pyloric stenosis, Ventriculomega...	OMIM:218350
Leukodystrophy, Hypomyelinating, 24	Severe short stature, Cerebral atrophy, Microcephaly, Ventriculomegaly, Thin corpus callosum	OMIM:619851
Central Precocious Puberty	Hydrocephalus, Hypothalamic hamartoma, Proportionate short stature, Increased body weight, Increa...	ORPHA:759
Familial Scaphocephaly Syndrome, Mcgillivray Type	High palate, Ventriculomegaly	ORPHA:168624
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Cerebral atrophy, Polyphagia, Thin corpus callosum, Obesity	OMIM:616521
Peho-Like Syndrome	Polymicrogyria, Hypoplasia of the corpus callosum, Lissencephaly, Ventriculomegaly, Progressive m...	OMIM:617507
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased CSF lactate, Cerebral atrophy, Small for gestational age, Microcephaly, Basal ganglia c...	OMIM:312170
Aspergillosis	Keratitis, Asthma, Sinusitis, Osteomyelitis, Stroke, Chronic pulmonary obstruction, Intracranial ...	ORPHA:1163
Trisomy 5P	Obesity, Ventriculomegaly, Short stature	ORPHA:1742
Febrile Infection-Related Epilepsy Syndrome	Sinusitis, Cough	ORPHA:163703
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral pattern, Agenesis of cor...	OMIM:619302
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	High palate, Failure to thrive, Gastroesophageal reflux, Cleft palate, Microcephaly, Hypoplasia o...	OMIM:618603
Abeta Amyloidosis, Iowa Type	Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology	ORPHA:324708
Temple Syndrome	High palate, Intrauterine growth retardation, Hydrocephalus, Cleft palate, Small for gestational ...	OMIM:616222
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m...	ORPHA:293725
Distal Monosomy 10Q	High palate, Anal atresia, Failure to thrive, Cleft palate, Short stature, Cavum septum pellucidu...	ORPHA:96148
Mitochondrial Complex I Deficiency, Nuclear Type 33	Dysphagia, Abnormal cerebral white matter morphology, Intrauterine growth retardation, Ventriculo...	OMIM:618253
Internal Carotid Absence	Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia	ORPHA:981
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Meckel diverticulum, Abnormal brainstem morphology, Ventriculomegaly, Dysphagia, A...	ORPHA:163961
Ciliary Dyskinesia, Primary, 42	Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ...	OMIM:618695
Developmental And Epileptic Encephalopathy 70	Microcephaly, Cryptorchidism, Cerebral cortical atrophy, Ventriculomegaly	OMIM:618298
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Cerebral ischemia, Arterial stenosis, Lacun...	ORPHA:136
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Simplified gyral pattern, Hydrocephalus, Microcephaly, Periventricular white matter hyperintensities	OMIM:619470
Agammaglobulinemia 6, Autosomal Recessive	Recurrent bronchitis, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media, Conjunctivitis	OMIM:612692
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Skraban-Deardorff Syndrome	Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:617616
Frontal Encephalocele	Hydrocephalus, Cerebral calcification, Encephalocele, Spina bifida, Aplasia/Hypoplasia of the cor...	ORPHA:1931
Intellectual Developmental Disorder, Autosomal Recessive 68	Microcephaly, Hydrocephalus, Periventricular leukomalacia, Small for gestational age	OMIM:618302
Intellectual Developmental Disorder, Autosomal Recessive 46	Large for gestational age, Growth delay, Ventriculomegaly, Short stature	OMIM:616116
Mitochondrial Complex I Deficiency, Nuclear Type 6	Failure to thrive, Ventriculomegaly	OMIM:618228
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Perisylvian polymicrogyria, Absent uvula, Ventriculomegaly	OMIM:616531
Pontocerebellar Hypoplasia, Type 9	Cerebral cortical atrophy, Macroglossia, Microcephaly, Hypoplasia of the corpus callosum, Ventric...	OMIM:615809
Cardiomyopathy, Dilated, 2G	Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation...	OMIM:619897
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Cerebral atrophy, Cerebral calcification, Ventriculomegaly, Progressive microcepha...	OMIM:610333
Isolated Agammaglobulinemia	Sinusitis, Skin rash, Otitis media, Arthritis, Pneumonia, Inflammatory abnormality of the eye, Re...	ORPHA:229717
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bifid uvula, Cleft palate	OMIM:258320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Hypoplasia of the pons, Type II lissencephaly, Abnormal cerebral white matter morp...	OMIM:613153
Joubert Syndrome 31	Molar tooth sign on MRI, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:617761
Cardiomyopathy, Familial Restrictive, 1	Ventriculomegaly	OMIM:115210
Familial Afibrinogenemia	Abnormal bleeding, Gingival bleeding, Epistaxis, Cerebral hemorrhage	ORPHA:98880
Circumvallate Placenta Syndrome	Respiratory insufficiency, Intracranial hemorrhage	OMIM:215550
Bilateral Frontoparietal Polymicrogyria	Cerebral dysmyelination, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Ventriculomega...	ORPHA:101070
Gómez-López-Hernández Syndrome	Hydrocephalus, Abnormal brainstem morphology, Short stature	ORPHA:1532
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Polymicrogyria, Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:618291
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Chronic gastritis, Leukoencephalopathy, Colitis, Failure to thrive, Corpus callosum atrophy, Infl...	OMIM:608809
Koolen-De Vries Syndrome Due To A Point Mutation	Laryngomalacia, Hydrocephalus, Protruding ear, Recurrent otitis media, Decreased response to grow...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Laryngomalacia, Hydrocephalus, Protruding ear, Recurrent otitis media, Decreased response to grow...	ORPHA:363958
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Ventriculomegaly	ORPHA:324416
Dengue Fever	Petechiae, Cerebral hemorrhage, Bruising susceptibility, Skin rash, Hypotension, Gingival bleedin...	ORPHA:99828
Mitochondrial Complex I Deficiency, Nuclear Type 31	Failure to thrive, Ventriculomegaly	OMIM:618251
Biemond Syndrome Type 2	Obesity, Hydrocephalus, Delayed puberty, Short stature	ORPHA:141333
Dandy-Walker Malformation With Postaxial Polydactyly	Hydrocephalus, Aortic valve stenosis, Microretrognathia, Dilated fourth ventricle, Patent ductus ...	OMIM:220220
Congenital Toxoplasmosis	Hydrocephalus, Cerebral calcification, Microcephaly, Ventriculomegaly, Intrauterine growth retard...	ORPHA:858
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Hypoplasia of the corpus callosum	ORPHA:401815
Orofaciodigital Syndrome Type 14	Cleft palate, Open operculum, Dilated third ventricle, Bifid tongue, Dilated fourth ventricle, Mi...	ORPHA:434179
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language	High palate, Microcephaly, Cerebral atrophy, Ventriculomegaly	OMIM:617804
Diencephalic Syndrome	Cachexia, Hydrocephalus, Decreased body weight	ORPHA:1672
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, External ear malformation, Chroni...	ORPHA:33110
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus	ORPHA:398189
Moyamoya Disease	Ventriculomegaly	ORPHA:2573
Spastic Paraplegia 50, Autosomal Recessive	High palate, Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:612936
Ciliary Dyskinesia, Primary, 23	Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Chro...	OMIM:615451
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, High, narrow palate, Short stature, Azoospermia, Obesity	ORPHA:2183
3-Methylglutaconic Aciduria, Type Viii	Increased CSF lactate, Cerebral atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Gro...	OMIM:617248
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Intraventricular hemorrhage, Skin rash	ORPHA:79284
Pontocerebellar Hypoplasia, Type 10	High palate, Growth delay, Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus call...	OMIM:615803
Fanconi Anemia, Complementation Group W	Duodenal atresia, Decreased response to growth hormone stimulation test, Microcephaly, Abnormal p...	OMIM:617784
17P13.3 Microduplication Syndrome	High palate, Ventriculomegaly, Hypoplasia of the corpus callosum	ORPHA:217385
Neurocutaneous Melanocytosis	Intracranial hemorrhage, Infectious encephalitis, Ventriculomegaly, Meningocele, Dandy-Walker mal...	ORPHA:2481
6Q25 Microdeletion Syndrome	High palate, Failure to thrive, Cleft palate, Short stature, Microcephaly, Ventriculomegaly, Agen...	ORPHA:251056
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Hypoplasia of the brainstem, Ventriculomegaly, Short stature	OMIM:618273
Pontocerebellar Hypoplasia Type 2	Hypoplasia of the brainstem, Dysplastic corpus callosum, Gastroesophageal reflux, Impaired oropha...	ORPHA:2524
Aneurysm, Intracranial Berry, 2	Cerebral berry aneurysm, Subarachnoid hemorrhage	OMIM:608542
Fragile X Syndrome	Sinusitis, Protruding ear, Otitis media, Chronic otitis media, Ascending tubular aorta aneurysm, ...	ORPHA:908
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity, Ventriculomegaly, Hypoplasia of the corpus callosum	ORPHA:521390
Congenital Muscular Dystrophy With Intellectual Disability	Abnormal pons morphology, Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callo...	ORPHA:370968
Hydrocephalus With Associated Malformations	Intestinal malrotation, Hydrocephalus, Intrauterine growth retardation	OMIM:236640
Agammaglobulinemia 4, Autosomal Recessive	Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media	OMIM:613502
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Secondary micro...	OMIM:615599
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Eosinophilic Granulomatosis With Polyangiitis	Asthma, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, End...	ORPHA:183
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Abnormal cerebral white matter morphology, Abnormal periventricular white matter morphology, Vent...	OMIM:613443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Microcephaly, Hypoplasia of the pons, Ventriculomegaly	OMIM:613151
Neurofibromatosis, Type I	Hydrocephalus, Aqueductal stenosis, Parathyroid adenoma, Short stature, Pheochromocytoma, Spina b...	OMIM:162200
Combined Oxidative Phosphorylation Deficiency 14	Cerebral atrophy, Microcephaly, Atrophy/Degeneration affecting the brainstem, Diffuse cerebral at...	OMIM:614946
Hydranencephaly	Infantile sensorineural hearing impairment, Atrophic pituitary gland, Abnormal internal carotid a...	ORPHA:2177
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
X-Linked Intellectual Disability, Cantagrel Type	Cerebral cortical atrophy, Gastroesophageal reflux, Ventriculomegaly, Hypoplasia of the corpus ca...	ORPHA:85277
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	High palate, Primary microcephaly, Ventriculomegaly	ORPHA:2172
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Patent ductus arteriosus, Frontal encephalocele, Aortic aneurysm	ORPHA:261102
Scedosporiosis	Bronchial breath sound, Sinusitis, Osteomyelitis, Pleural empyema, Endocarditis, Cough, Pneumonia...	ORPHA:449280
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Hypoplasia of the pons, Fusion of the left and right thalami, Abnormality of the a...	OMIM:617542
Charge Syndrome	Gastroesophageal reflux, Aqueductal stenosis, Cleft palate, Holoprosencephaly, Abnormal soft pala...	ORPHA:138
Ataxia-Deafness-Intellectual Disability Syndrome	Cerebral cortical atrophy, Ventriculomegaly	ORPHA:1188
Cerebral Cavernous Malformations	Cerebral cavernous malformation, Intracranial hemorrhage	OMIM:116860
Craniotelencephalic Dysplasia	Hydrocephalus, Microcephaly, Frontal encephalocele, Arrhinencephaly, Lissencephaly, Septo-optic d...	ORPHA:1528
Chromosome 3Q13.31 Deletion Syndrome	High palate, Alobar holoprosencephaly, High, narrow palate, Ventriculomegaly, Decreased testicula...	OMIM:615433
Myopathy, Congenital, Bailey-Bloch	High palate, Cleft palate, Short stature, Microcephaly, Ventriculomegaly, Cryptorchidism	OMIM:255995
Brain Small Vessel Disease 3	Cerebral hemorrhage	OMIM:618360
Polymicrogyria, Bilateral Frontoparietal	Perisylvian polymicrogyria, Cerebral dysmyelination, Hypoplasia of the pons, Frontal polymicrogyr...	OMIM:606854
Sneddon Syndrome	Hypertension, Ischemic stroke, Stroke, Cerebral hemorrhage	OMIM:182410
Ciliary Dyskinesia, Primary, 44	Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu...	OMIM:618781
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	High palate, Failure to thrive, Hydrocephalus, Intrauterine growth retardation, Gastroesophageal ...	OMIM:619833
Hemimegalencephaly	Polymicrogyria, Ventriculomegaly, Hyperintensity of cerebral white matter on MRI, Pachygyria, Hem...	ORPHA:99802
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Temporal cortical atrophy, Caudate atrophy, Frontal cortical atrophy, Ventriculomegaly	ORPHA:137831
Nasu-Hakola Disease	Hydrocephalus, Cerebral cortical atrophy, Cerebral calcification, Ventriculomegaly, Functional ab...	ORPHA:2770
Christianson Syndrome	Cerebral cortical atrophy, Gastroesophageal reflux, Cachexia, Microcephaly, Ventriculomegaly, Dys...	ORPHA:85278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydrocephalus, Anencephaly, Cortical dysplasia, Type II lissencephaly, Ventriculomegaly, Decrease...	OMIM:615287
Lissencephaly 8	Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Type II lissencephaly, Agyria, V...	OMIM:617255
Congenital Muscular Dystrophy Without Intellectual Disability	Abnormal cerebral white matter morphology, Pachygyria, Microcephaly, Ventriculomegaly	ORPHA:370980
Microhydranencephaly	Short stature, Microcephaly, Ventriculomegaly, Growth delay, Pachygyria, Hydranencephaly, Agenesi...	OMIM:605013
Kohlschutter-Tonz Syndrome	Cerebral atrophy, Ventriculomegaly	OMIM:226750
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Microcephaly, Ventriculomegaly	OMIM:619150
Congenital Factor V Deficiency	Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Po...	ORPHA:326
Pontocerebellar Hypoplasia, Type 16	Cerebral cortical atrophy, Thin corpus callosum, Hypoplasia of the pons, Ventriculomegaly, Dysphagia	OMIM:619527
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Macrotia, Congestive heart failure	OMIM:300886
6P22 Microdeletion Syndrome	Hydrocephalus, Overfolded helix, Hearing impairment, Patent ductus arteriosus, Low-set ears	ORPHA:251046
Cornelia De Lange Syndrome 2	High palate, Gastroesophageal reflux, Short stature, Microcephaly, Ventriculomegaly, Postnatal gr...	OMIM:300590
Warburg Micro Syndrome 1	Perisylvian polymicrogyria, Failure to thrive, Cerebral atrophy, Short stature, Microcephaly, Hyp...	OMIM:600118
Hereditary Hemorrhagic Telangiectasia	Telangiectasia of the skin, Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebra...	ORPHA:774
Methanol Poisoning	Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor...	ORPHA:31825
Acalvaria	Hydrocephalus, Spina bifida, Cleft palate, Holoprosencephaly	ORPHA:945
Microcephaly 27, Primary, Autosomal Dominant	Primary microcephaly, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Simplified ...	OMIM:619180
Dworschak-Punetha Neurodevelopmental Syndrome	Large earlobe, Dysplastic corpus callosum, Cupped ear, Colpocephaly, Agenesis of corpus callosum,...	OMIM:619955
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia	Hydrocephalus, Malar flattening, Enamel hypoplasia, Mandibular prognathia, Low-set ears	OMIM:600991
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Progressive ...	OMIM:615760
Yellow Nail Syndrome	Sinusitis, Rhinitis, Cough, Bronchiectasis, Dyspnea, Pulmonary arterial hypertension, Hypoplasia ...	ORPHA:662
Glanzmann Thrombasthenia 1	Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su...	OMIM:273800
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage	OMIM:616507
Maternal Uniparental Disomy Of Chromosome 1	Failure to thrive, Gastroesophageal reflux, Short stature, Ventriculomegaly, Growth delay	ORPHA:251009
+173470 integrin, beta-3	Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Gingival bleedi...	OMIM:173470
Neuronal Intranuclear Inclusion Disease	CSF pleocytosis, Leukoencephalopathy, Ventriculomegaly, Increased CSF protein	OMIM:603472
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Secondary microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum	ORPHA:397951
Microscopic Polyangiitis	Sinusitis, Pancreatitis, Subcutaneous hemorrhage, Skin rash, Peritonitis, Arrhythmia, Vasculitis,...	ORPHA:727
Ciliary Dyskinesia, Primary, 33	Conductive hearing impairment, Cough, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia,...	OMIM:616726
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysphagia, H...	ORPHA:500180
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Cryptorchidism, Agenesis of c...	OMIM:618577
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Failure to thrive, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the pons	OMIM:618276
Juvenile Huntington Disease	Abnormal cerebral white matter morphology, Weight loss, Ventriculomegaly, Neuronal loss in basal ...	ORPHA:248111
Severe Hemophilia A	Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Su...	ORPHA:169802
Non-Functioning Paraganglioma	Conductive hearing impairment, Hypertension associated with pheochromocytoma, Pulsatile tinnitus,...	ORPHA:94080
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Stroke, Cerebral hemorrhage	OMIM:300049
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities	High palate, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Hypoplasia of the...	OMIM:618354
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Low-set ears, Hydrocephalus, Micrognathia, Patent ductus arteriosus	ORPHA:1516
Developmental And Epileptic Encephalopathy 99	Thick corpus callosum, Perisylvian polymicrogyria, Microcephaly, Atrophy/Degeneration affecting t...	OMIM:619606
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Increased CSF lactate, Gastroesophageal reflux, Cerebral cortical atrophy, Hypoplasia of the pons...	ORPHA:500144
Immunodeficiency 102	Recurrent skin infections, Recurrent upper respiratory tract infections, Recurrent sinusitis, Chr...	OMIM:301082
Hydrocephalus, Congenital Communicating, 1	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Anal atresia, Duodenal atresia, Hydrocephalus, Myelomeningocele, Aqueduc...	OMIM:306955
Ciliary Dyskinesia, Primary, 7	Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric...	OMIM:611884
Narp Syndrome	Cerebral cortical atrophy, Short stature, Abnormal basal ganglia MRI signal intensity, Ventriculo...	ORPHA:644
Halperin-Birk Syndrome	High palate, Failure to thrive, Intrauterine growth retardation, Gastroesophageal reflux, Pseudob...	OMIM:618651
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus, Enlarged pituitary gland, Intracranial hemorrhage, Panhypopituitarism, Anterior hy...	ORPHA:91350
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Apnea, Overfolded helix, Respiratory insufficiency, Arrhythmia, Dilated cardiomyopathy, Ventricul...	OMIM:608836
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Type II lissencephaly, Ventriculomegaly, Intrauterine growth retardation, Aplasia/...	ORPHA:272
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Increased CSF lactate, Intraventricular hemorrhage, Prolonged prothrombin time	OMIM:619055
X-Linked Agammaglobulinemia	Sensorineural hearing impairment, Sinusitis, Osteomyelitis, Skin rash, Chronic otitis media, Arth...	ORPHA:47
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Cavum septum pellucidum, Polymicrogyria, Ventriculomegaly, Megalencephaly	OMIM:602501
Felty Syndrome	Sinusitis, Chronic otitis media, Arthritis, Episcleritis, Recurrent pharyngitis, Recurrent pneumo...	ORPHA:47612
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Melena, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Abnormal vascular morphology, Musc...	ORPHA:464321
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Ventriculomegaly	OMIM:206570
Intellectual Developmental Disorder, X-Linked 12	Small for gestational age, Short stature, Microcephaly, Increased body mass index, Truncal obesit...	OMIM:300957
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti...	OMIM:619436
X-Linked Lissencephaly With Abnormal Genitalia	Malabsorption, Aganglionic megacolon, Pachygyria, Microcephaly, Ventriculomegaly, Cryptorchidism,...	ORPHA:452
Microcephalic Primordial Dwarfism, Toriello Type	Intrauterine growth retardation, Microcephaly, Severe short stature, Ventriculomegaly	ORPHA:2643
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Decreased body weight, Cleft palate, Microcephaly, Bifid uvula, Hypoplasia of the corpus callosum...	OMIM:300958
Selective Igm Deficiency	Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Chronic sinusitis, Recurrent cutane...	ORPHA:331235
Mosaic Trisomy 1	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Cleft palate	ORPHA:1692
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep...	OMIM:277450
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Small basal ganglia, Dysplastic corpus callosum, Cerebral atrophy, Macroglossia, Hypoplasia of th...	OMIM:616900
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Hydrocephalus, Malar flattening, Hypoplasia of the maxilla, Ven...	OMIM:109120
Williams-Beuren Region Duplication Syndrome	High palate, Hydrocephalus, Decreased response to growth hormone stimulation test, Short stature,...	OMIM:609757
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Ventriculomegaly, Anteriorly placed anus	OMIM:618624
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Abdominal obesity, Macroglossia, Short stature, Cortical dysplasia, Hypoplasia of the corpus call...	OMIM:300354
Alexander Disease	Hydrocephalus, Increased CSF protein	OMIM:203450
Erythrocytosis, Familial, 1	Exertional dyspnea, Myocardial infarction, Cerebral hemorrhage, Hypertension	OMIM:133100
Intellectual Developmental Disorder, Autosomal Dominant 35	Pyloric stenosis, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly	OMIM:616355
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Secondary microcephaly, Ventriculomegaly	OMIM:613730
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Meckel Syndrome, Type 4	Hydrocephalus, Cleft palate, Microcephaly, Anencephaly, Hypoplasia of the corpus callosum, Mening...	OMIM:611134
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Lissencephaly, Ventriculomegaly, Simplified gyral pattern, Colpocephaly	OMIM:615219
Cornelia De Lange Syndrome 5	High palate, Gastroesophageal reflux, Cleft palate, Short stature, Microcephaly, Truncal obesity,...	OMIM:300882
Congenital Factor Ii Deficiency	Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P...	ORPHA:325
Bacterial Toxic-Shock Syndrome	Respiratory distress, Myocarditis, Pneumonia, Septic arthritis, Osteomyelitis, Peritonitis, Tachy...	ORPHA:36234
Factor Xiii, A Subunit, Deficiency Of	Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s...	OMIM:613225
Spastic Paraplegia 75, Autosomal Recessive	Corpus callosum atrophy, Ventriculomegaly	OMIM:616680
Baraitser-Winter Syndrome 2	Short stature, Lissencephaly, Ventriculomegaly, Pachygyria, Secondary microcephaly, Agenesis of c...	OMIM:614583
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Conductive hearing impairment, Hydrocephalus, Malar flattening, Respiratory insufficiency, Hypopl...	ORPHA:93262
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Microcephaly, Cortical dysplasia, Ventriculomegaly, Hypoplasia of the corpus callosum	ORPHA:457260
Goldberg-Shprintzen Megacolon Syndrome	Cleft palate, Short stature, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, P...	ORPHA:66629
Prader-Willi Syndrome Due To Translocation	High palate, Cerebral cortical atrophy, Decreased response to growth hormone stimulation test, Cl...	ORPHA:177907
Rheumatic Fever	Sinusitis, Respiratory insufficiency, Arrhythmia, Endocarditis, Myocarditis, Arthritis, Recurrent...	ORPHA:3099
Congenital Muscular Dystrophy With Cerebellar Involvement	Decreased thalamic volume, Hydrocephalus, Macroglossia, Microcephaly, Dilated fourth ventricle, H...	ORPHA:370959
Bresek Syndrome	Hydrocephalus, Cleft palate, Microcephaly, Neonatal death, Decreased testicular size, Growth dela...	ORPHA:85284
Developmental And Epileptic Encephalopathy 1	Dysphagia, Growth delay, Microcephaly, Ventriculomegaly	OMIM:308350
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies	Ventriculomegaly, Short stature	OMIM:611555
1Q44 Microdeletion Syndrome	High palate, Hydrocephalus, Short stature, Intestinal malrotation, Microcephaly, Ventriculomegaly...	ORPHA:238769
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:618381
Congenital Disorder Of Glycosylation, Type Ii	High palate, Decreased body weight, Gastroesophageal reflux, Short stature, Microcephaly, Focal T...	OMIM:607906
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Dysplastic corpus callosum, Short stature, Microcephaly, Hypoplasia of the cor...	OMIM:619179
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein	ORPHA:251915
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Cerebral atrophy, High, narrow palate, Ventriculomegaly	OMIM:617268
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Disproportionate short-limb short stature, Microcephaly, Ventriculomegaly, Cryptorchidism, Intrau...	ORPHA:2772
Plasminogen Deficiency, Type I	Hydrocephalus, Periodontitis, Nephritis, Recurrent upper respiratory tract infections, Ventriculo...	OMIM:217090
Snakebite Envenomation	Stroke, Respiratory paralysis, Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Cardiogen...	ORPHA:449285
Congenital Neuronal Ceroid Lipofuscinosis	Cerebral hypoplasia, Microcephaly, Ventriculomegaly, Neuronal loss in the cerebral cortex, Pachyg...	ORPHA:168486
Hemidystonia-Hemiatrophy Syndrome	Abnormal paranasal sinus morphology, Advanced pneumatization of cranial sinuses	ORPHA:306741
Ciliary Dyskinesia, Primary, 5	Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Chro...	OMIM:608647
Intellectual Developmental Disorder, Autosomal Dominant 21	Cleft palate, Short stature, Microcephaly, Ventriculomegaly, Cryptorchidism	OMIM:615502
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebral cortical atrophy, Intrauterine growth retardation, Ventriculomegaly	OMIM:619922
Weiss-Kruszka Syndrome	Horizontal crus of helix, Protruding ear, Microtia, Overfolded helix, Cupped ear, Dextrotransposi...	OMIM:618619
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Microtia, Micrognathia, Anotia, Conotruncal defect	OMIM:243440
Mucopolysaccharidosis Type 1	Sensorineural hearing impairment, Apnea, Hydrocephalus, Sinusitis, Chronic otitis media, Cough, H...	ORPHA:579
Lissencephaly 6 With Microcephaly	Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Partial agenesis of the corpus c...	OMIM:616212
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent otitis media, Asthma, Viral hepatitis, Skin rash, Rheumatoid arthrit...	ORPHA:183675
Shashi-Pena Syndrome	Ventriculomegaly	OMIM:617190
Pallister-Hall-Like Syndrome	Hydrocephalus, Cleft palate, Hypothalamic hamartoma, Anterior hypopituitarism, Microglossia, Occi...	OMIM:241800
Developmental And Epileptic Encephalopathy 65	Microcephaly, Cerebral atrophy, Ventriculomegaly	OMIM:618008
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Prostatitis, Decreased response to growth hormone stimulation test, Pyoderma, Enterovi...	OMIM:307200
Acromelic Frontonasal Dysostosis	Cryptorchidism, Cleft palate, Choroid plexus cyst, Hypopituitarism, Hypoplasia of the corpus call...	OMIM:603671
Erythrocytosis, Familial, 2	Stroke, Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Varicose veins	OMIM:263400
Telangiectasia, Hereditary Hemorrhagic, Type 4	Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb...	OMIM:610655
Mitochondrial Complex I Deficiency, Nuclear Type 37	High palate, Failure to thrive, Increased CSF lactate, Cerebral cortical atrophy, Cerebral atroph...	OMIM:619272
Nephronophthisis 18	Hydrocephalus, Tubulointerstitial nephritis	OMIM:615862
Pierpont Syndrome	Small for gestational age, Abnormal cortical gyration, Primary microcephaly, Ventriculomegaly, Cr...	ORPHA:487825
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Megalencephaly, Hydrocephalus, Polymicrogyria	ORPHA:83473
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Asthma, Eosinophilic infiltration of the esophagus, Cerebral vasculitis, Eczema, Atopic dermatiti...	OMIM:243700
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Cerebral calcification, Cachexia, Microcephaly, Ventriculomegaly	ORPHA:1933
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cleft palate, Cavum septum pellucidum, Partial agenesis of the corpus callosum, Ventriculomegaly,...	OMIM:619074
Neural Tube Defects, Susceptibility To	Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	OMIM:182940
Autoinflammatory Disease, Systemic, X-Linked	Panuveitis, Osteomyelitis, Cerebral hemorrhage, Optic neuritis, Anterior uveitis, Panniculitis	OMIM:301081
Curry-Jones Syndrome	Intestinal malrotation, Polymicrogyria, Anal stenosis, Ventriculomegaly, Megalencephaly, Hemimega...	OMIM:601707
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Abnormal pinna morphology, Microretrognathia, Microtia, Low-set ears	OMIM:613603
Clcn4-Related X-Linked Intellectual Disability Syndrome	Cerebral cortical atrophy, Gastroesophageal reflux, Microcephaly, Hypoplasia of the corpus callos...	ORPHA:485350
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Decreased body weight, Decreased response to growth hormone stim...	OMIM:609053
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Microcephaly, Colpocephaly, Polymicrogyria	OMIM:618731
Thanatophoric Dysplasia Type 2	Hydrocephalus, Holoprosencephaly, Respiratory insufficiency, Hearing impairment, Patent ductus ar...	ORPHA:93274
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra...	OMIM:605714
Cog8-Cdg	Failure to thrive, Atrophy/Degeneration affecting the brainstem, Protein-losing enteropathy, Vent...	ORPHA:95428
Glycosylphosphatidylinositol Biosynthesis Defect 17	High palate, Growth delay, Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Lissencephaly, X-Linked, 2	High palate, Lissencephaly, Ventriculomegaly, Decreased testicular size, Pachygyria, Agenesis of ...	OMIM:300215
Coach Syndrome 2	Hypertension, Hydrocephalus, Agenesis of corpus callosum, Apneic episodes in infancy	OMIM:619111
Pseudo-Torch Syndrome 3	Apnea, Cerebral hemorrhage, Lymphadenitis, Respiratory insufficiency, Hypertension	OMIM:618886
49,Xxxyy Syndrome	Abnormality of the testis size, Eunuchoid habitus, Abnormal cerebral white matter morphology, Ven...	ORPHA:261534
Caribbean Parkinsonism	T2 hypointense basal ganglia, Midline brain calcifications, Ventriculomegaly, Cerebral cortical a...	ORPHA:97355
Telangiectasia, Hereditary Hemorrhagic, Type 1	Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo...	OMIM:187300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Malar flattening, Micrognathia, Pneumonia, Bronchiectasis, Low-set ears	OMIM:242860
Mental Retardation, Buenos Aires Type	High palate, Failure to thrive, Hydrocephalus, Microcephaly, Partial agenesis of the corpus callosum	OMIM:249630
Intellectual Developmental Disorder, X-Linked 30	High palate, Microcephaly, Hydrocephalus, Short stature	OMIM:300558
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus, Pulmonic stenosis, Low-set, posteriorly rotated ears, Carious teeth, Macrotia, Hea...	ORPHA:2701
Orofaciodigital Syndrome Xvii	Short stature, Decreased body weight, High, narrow palate, Ventriculomegaly	OMIM:617926
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Leukoencephalopathy, Small basal ganglia, Failure to thrive, Ventriculomegaly, Cryptorchidism, Ap...	ORPHA:88639
Wiskott-Aldrich Syndrome	Keratitis, Otitis media, Sudden cardiac death, Eczema, Hematochezia, Spontaneous hematomas, Prolo...	ORPHA:906
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cerebral cortical atrophy, Intrauterine growth retardation, Ventriculomegaly, Short stature	ORPHA:48431
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Microcephaly, Increased CSF lactate, Ventriculomegaly, Short stature	OMIM:619059
Radial Aplasia, X-Linked	Anal atresia, Hydrocephalus	OMIM:312190
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Frontal cortical atrophy, Ventriculomegaly	ORPHA:206559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cerebral cortical atrophy, Macroglossia, Microcephaly, Hypoplasia of the corpus callosum, Ventric...	OMIM:613156
Chiari Malformation Type Ii	Myelomeningocele, Hydrocephalus, Dysphagia, Spina bifida, Agenesis of corpus callosum, Cervical m...	OMIM:207950
Cocaine Intoxication	Supraventricular arrhythmia, Respiratory distress, Subarachnoid hemorrhage, Myocardial infarction...	ORPHA:90068
Familial Cerebral Saccular Aneurysm	Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor...	ORPHA:231160
Primary Angiitis Of The Central Nervous System	Stroke, Cerebral vasculitis, CSF pleocytosis, Intracranial hemorrhage, Abnormal CSF protein level...	ORPHA:140989
Oxoglutarate Dehydrogenase Deficiency	Ventriculomegaly	OMIM:203740
Melanosis, Neurocutaneous	Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation	OMIM:249400
Infantile Sialic Acid Storage Disease	High palate, Failure to thrive, Hydrocephalus, Cerebral atrophy	OMIM:269920
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Cyclic Neutropenia	Periodontitis, Sinusitis, Enterocolitis, Recurrent skin infections, Otitis media, Peritonitis, Ph...	ORPHA:2686
Amish Lethal Microcephaly	Microcephaly, Lissencephaly, Ventriculomegaly, Spina bifida, Agenesis of corpus callosum, Cleft s...	ORPHA:99742
Cerebral Visual Impairment	Intracranial hemorrhage, Ischemic stroke, Infectious encephalitis, Hydrocephalus	ORPHA:447788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Leukoencephalopathy, Hydrocephalus, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly...	OMIM:615181
Granulomatosis With Polyangiitis	Keratitis, Sinusitis, Respiratory insufficiency, Retinal hemorrhage, Chronic otitis media, Cough,...	OMIM:608710
Hb Bart'S Hydrops Fetalis	Pericarditis, Hydrocephalus, Congestive heart failure	ORPHA:163596
Spondyloenchondrodysplasia	Dental malocclusion, Decreased response to growth hormone stimulation test, Skin rash, Raynaud ph...	ORPHA:1855
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Failure to thrive, Microcephaly, Ventriculomegaly	OMIM:619556
Albers-Schönberg Osteopetrosis	Hydrocephalus, Osteomyelitis, Mandibular osteomyelitis, Osteoarthritis, Arthritis, Carious teeth,...	ORPHA:53
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Failure to thrive, Ventriculomegaly, Megalencephaly, Cerebral white matter hypoplasia, Periventri...	ORPHA:500533
Congenital Disorder Of Glycosylation, Type Iil	Failure to thrive, Hydrocephalus, Cerebral atrophy, Microcephaly, Inflammation of the large intes...	OMIM:614576
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans

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