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
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