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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 (1436 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	Failure to thrive in infancy, Microcephaly, Simplified gyral pattern, Extra-axial cerebrospinal f...	OMIM:617800
Leukoencephalopathy With Vanishing White Matter 5	Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,...	OMIM:620315
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal...	ORPHA:300573
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Cortical Dysplasia, Complex, With Other Brain Malformations 5	Reduced cerebral white matter volume, Cortical dysplasia, Simplified gyral pattern, Hypoplasia of...	OMIM:615763
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age...	OMIM:307000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Megalencephaly, Hydrocephalus, Thick corpus callosum, Polymicrogyria, Ventriculomegaly	OMIM:615938
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Microcephaly, Simplified gyral pattern, Small cerebral cortex, Abnormal cerebral morphology, Abno...	ORPHA:329228
Familial Nasal Acilia	Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro...	ORPHA:922
Porencephaly	Porencephalic cyst, Ventriculomegaly	ORPHA:2940
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes...	OMIM:600348
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Decreased nasal nitric oxide,...	OMIM:612444
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian)	Enlarged sylvian cistern, Perisylvian polymicrogyria	OMIM:615752
Ciliary Dyskinesia, Primary, 6	Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary motility, Recurrent sinusitis, Ci...	OMIM:610852
Spastic Paraplegia 88, Autosomal Dominant	Attention deficit hyperactivity disorder, Thin corpus callosum, Ventriculomegaly, Hypoplasia of t...	OMIM:620106
Cerebral Palsy, Spastic Quadriplegic, 2	Cerebral atrophy, Ventriculomegaly	OMIM:612900
Ciliary Dyskinesia, Primary, 32	Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc...	OMIM:616481
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Microcephaly, Hydrocephalus, Cortical dysplasia, Attention deficit hyperactivity disorder, Abnorm...	OMIM:618709
Megalencephaly, Autosomal Dominant	Hydrocephalus, Megalencephaly	OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculom...	OMIM:615937
Ciliary Dyskinesia, Primary, 28	Neonatal respiratory distress, Dynein arm defect of respiratory motile cilia, Decreased nasal nit...	OMIM:615505
Ciliary Dyskinesia, Primary, 12	Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc...	OMIM:612650
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro...	OMIM:620032
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Ciliary Dyskinesia, Primary, 10	Chronic sinusitis, Recurrent sinusitis, Chronic otitis media, Ciliary dyskinesia, Abnormal respir...	OMIM:612518
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Periventricular leukomalacia, Short stature, Failure to thrive, Im...	ORPHA:500055
Ciliary Dyskinesia, Primary, 11	Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Abnormal central mic...	OMIM:612649
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Thick cerebral cortex, Hypoplasia of the pons, Hypoplasia of the brainstem, Lissencephaly, Hypopl...	OMIM:618677
Ciliary Dyskinesia, Primary, 17	Dynein arm defect of respiratory motile cilia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent...	OMIM:614679
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of...	OMIM:604213
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth, Anal atresia	OMIM:276950
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr...	OMIM:617091
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Aggressive behavior, Cryptorchidism, Simplified gyral patt...	OMIM:619244
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon	ORPHA:275543
Martsolf Syndrome 2	Short stature, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dec...	OMIM:619420
Lissencephaly 4	Short stature, Simplified gyral pattern, Growth delay, Colpocephaly, Lissencephaly, Primary micro...	OMIM:614019
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Megalencephaly, Diffuse white matter abnormalities, Cerebral atrophy, Diffuse swelling of cerebra...	OMIM:613925
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ...	OMIM:609637
Ciliary Dyskinesia, Primary, 16	Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot...	OMIM:614017
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation, Cortical dysplasia, Thick cerebral cortex, Cerebral hypoplasia	ORPHA:101071
Polymicrogyria, Bilateral Temporooccipital	Polymicrogyria, Ventriculomegaly, Aggressive behavior	OMIM:612691
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Ciliary Dyskinesia, Primary, 14	Neonatal respiratory distress, Absent inner dynein arms, Wheezing, Recurrent pneumonia, Abnormal ...	OMIM:613807
Lissencephaly 1	Subcortical band heterotopia, Abnormal cerebral white matter morphology, Hypoplasia of the brains...	OMIM:607432
Pontocerebellar Hypoplasia, Type 12	Cerebral atrophy, Hypoplasia of the brainstem, Lateral ventricle dilatation, Primary microcephaly...	OMIM:618266
Microcephaly 5, Primary, Autosomal Recessive	Short stature, Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex,...	OMIM:608716
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, Hypoplasia of the cor...	OMIM:618730
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Subcortical cerebral atr...	ORPHA:2703
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Ventriculomegaly, Short stature, Atrophy/Degeneration affecting the brainstem, Hypoplasia of the ...	OMIM:617862
Ciliary Dyskinesia With Defective Radial Spokes	Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini...	OMIM:242670
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle, Diffuse cerebral atrophy	ORPHA:363654
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Bowen-Conradi Syndrome	Short stature, Microcephaly, Cryptorchidism, Severe postnatal growth retardation, Severe intraute...	ORPHA:1270
Pyruvate Dehydrogenase E1-Alpha Deficiency	Periventricular leukomalacia, Small for gestational age, Microcephaly, Partial agenesis of the co...	ORPHA:79243
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Pettigrew Syndrome	Cerebral calcification, Microcephaly, Aqueductal stenosis, Basal ganglia calcification, Hydroceph...	OMIM:304340
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Sensorineural hearing impairment, Low-set ears, Aspiration pneumonia...	OMIM:616430
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Ventriculomegaly, Moyamoya phenomenon	ORPHA:401986
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation...	OMIM:613443
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Tongue thrusting, Lateral ventri...	ORPHA:77299
Moderate Hemophilia A	Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den...	ORPHA:169805
Ciliary Dyskinesia, Primary, 15	Neonatal respiratory distress, Nasal polyposis, Wheezing, Recurrent pneumonia, Abnormal axonemal ...	OMIM:613808
Intellectual Developmental Disorder, X-Linked 103	Bilateral cryptorchidism, Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Microcephaly, Seizures, And Developmental Delay	Ventriculomegaly, Hyperactivity, Microcephaly, Simplified gyral pattern, Hypoplasia of the corpus...	OMIM:613402
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Microcephaly, Hypoplasia of the pons, Hypoplasia of the ventral p...	OMIM:607596
Bonnemann-Meinecke-Reich Syndrome	Cerebral calcification, Short stature, Decreased response to growth hormone stimulation test, Mic...	ORPHA:1261
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Intrauterine growth retardation, Cerebral calcification, Intestinal malrotation	ORPHA:3035
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Unilateral cryptorchidism, Impulsivity, Aggressive behavior, Attention deficit hy...	OMIM:618286
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Short stature, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Cerebral white matter hyp...	ORPHA:3207
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
Microlissencephaly	Thick cerebral cortex, Cerebral dysmyelination, Microcephaly, Simplified gyral pattern, Neuronal ...	ORPHA:1083
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Microcephaly, Attention deficit hyperactivity disorder, Abnormal periventricular white matter mor...	OMIM:619725
Ciliary Dyskinesia, Primary, 40	Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Ab...	OMIM:618300
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Nasal polyposis, Pneumonia, Absent frontal sinuses, Absent outer dyn...	OMIM:244400
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Corpus callosum atrophy...	OMIM:301107
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:616816
Ciliary Dyskinesia, Primary, 13	Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Recurrent sin...	OMIM:613193
Ciliary Dyskinesia, Primary, 50	Coiled sperm flagella, Short sperm flagella, Chronic sinusitis, Absent inner dynein arms	OMIM:620356
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Caudate atrophy, Failure to thrive, Reduced cerebral white matter volum...	OMIM:615574
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Aggressive behavior, Celiac disease, Dysplastic corpus callosum, Bilateral cryptorchidism, Large ...	ORPHA:544488
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation, Micrognathia	ORPHA:1538
Leukoencephalopathy, Progressive, With Ovarian Failure	Progressive leukoencephalopathy, Lateral ventricle dilatation, Periventricular leukomalacia, Leuk...	OMIM:615889
Bilateral Generalized Polymicrogyria	Short stature, Microcephaly, Oral-pharyngeal dysphagia, Diffuse white matter abnormalities, Growt...	ORPHA:208447
Galloway-Mowat Syndrome	Short stature, Microcephaly, Aqueductal stenosis, Hiatus hernia, Intrauterine growth retardation,...	ORPHA:2065
Masa Syndrome	Short stature, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2466
Olivopontocerebellar Atrophy-Deafness Syndrome	Cerebral cortical atrophy, Ventriculomegaly	ORPHA:2732
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor...	OMIM:617668
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Conductive hearing impairment, Decreased nasal n...	OMIM:618063
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Pachygyria, Agyria, Ventriculomegaly	ORPHA:1084
Ciliary Dyskinesia, Primary, 18	Neonatal respiratory distress, Absent inner dynein arms, Absent outer dynein arms, Decreased nasa...	OMIM:614874
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly, Primary microcephaly	ORPHA:171703
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Leukoencephalopathy, Cerebral ...	OMIM:221770
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Abnormal brainstem morphology, Periventricular cysts, Cerebral atrophy, Abnormal ba...	ORPHA:255182
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Ciliary Dyskinesia, Primary, 26	Neonatal respiratory distress, Absent outer dynein arms, Decreased nasal nitric oxide, Bronchiect...	OMIM:615500
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Microcephaly, Cleft palate, Growth delay, Lateral ventricle dilatation, Bruxism, Thin corpus call...	OMIM:615716
Microcephaly 17, Primary, Autosomal Recessive	Short stature, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Hypopla...	OMIM:617090
Alg2-Cdg	Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas...	ORPHA:79326
Neurooculorenal Syndrome	Ectopic posterior pituitary, Intestinal malrotation, Aqueductal stenosis, Hypoplasia of the pons,...	OMIM:620305
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Intraventricular hemorrhage, Hydrocephalus, Hydrocele t...	OMIM:613603
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Lateral ventricle dilatation	OMIM:619972
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus, Periodontitis, Hearing impairment	ORPHA:1008
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Restlessness, Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation...	OMIM:619517
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Ventriculomegaly, Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, P...	OMIM:616486
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ...	OMIM:613154
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Dandy-Walker malformation, Failure to thrive, Short stature, Absent sept...	ORPHA:397715
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Failure to thrive, Short stature, Overweight, High, narrow palate, Hydrocephalus, Head-banging, H...	OMIM:619575
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Failure to thrive in infancy, Simplified gyral pattern, Lateral ventricle dilatation, Lissencepha...	ORPHA:284417
Hemiparkinsonism-Hemiatrophy Syndrome	Neonatal asphyxia, Lateral ventricle dilatation	ORPHA:306669
Alg13-Cdg	Abnormal lateral ventricle morphology, Decreased body weight	ORPHA:324422
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Obesity, Cerebral atrophy, Lateral ventricle dilatation,...	OMIM:617296
Cerebrooculofacioskeletal Syndrome 3	Microcephaly, Cleft palate, Intrauterine growth retardation, Agenesis of corpus callosum, Ventric...	OMIM:616570
Pontocerebellar Hypoplasia, Type 13	Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, High palate, Hypoplasia of th...	OMIM:618606
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Ventriculomegaly	OMIM:619501
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Aggressi...	ORPHA:488627
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Short stature, Aggressive behavior, Self-injurious behavior, Frontal cortical atrophy, Slender bu...	OMIM:300699
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Microcephaly-Micromelia Syndrome	Microcephaly, Aqueductal stenosis, Simplified gyral pattern, Cleft palate, Aplasia/Hypoplasia of ...	OMIM:251230
Holoprosencephaly 14	Absent septum pellucidum, Microcephaly, Aqueductal stenosis, Alobar holoprosencephaly, Hydrocepha...	OMIM:619895
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Neonatal respiratory distress, Hydrocephalus	OMIM:266100
Lissencephaly 3	Agyria, Microcephaly, Hypoplasia of the brainstem, Lissencephaly, Hypoplasia of the corpus callos...	OMIM:611603
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Absent outer dynein arms, Asthma, Decreased nasal nitric oxide, Bronchiectasis, ...	OMIM:616037
Primary Ciliary Dyskinesia	Abnormal inferior vena cava morphology, Neonatal respiratory distress, Nasal polyposis, Hearing i...	ORPHA:244
Masa Syndrome	Short stature, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Cryptorchidism, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:1568
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Abnormal pinna morphology, Micrognathia, Respiratory insufficiency due to muscle w...	OMIM:618291
Brain Small Vessel Disease 2	Intracranial hemorrhage, Ventriculomegaly	OMIM:614483
Cach Syndrome	Microcephaly, T2 hypointense thalamus, Atrophy/Degeneration affecting the brainstem, Cerebral atr...	ORPHA:135
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesi...	OMIM:618736
Pfeiffer Syndrome Type 2	Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, High palate, Anal atresia	ORPHA:93259
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618890
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation, Short stature	OMIM:618330
Familial Cervical Artery Dissection	Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral...	ORPHA:36382
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Cerebral calcification	ORPHA:99966
Corpus Callosum, Partial Agenesis Of, X-Linked	Aganglionic megacolon, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, High...	OMIM:304100
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he...	ORPHA:98878
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,...	OMIM:615294
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Posterior fossa cyst at the fourth ventricle	OMIM:220200
Yoon-Bellen Neurodevelopmental Syndrome	Failure to thrive, Microcephaly, Cerebral atrophy, High palate, Hypoplasia of the corpus callosum...	OMIM:619701
Pseudo-Torch Syndrome 2	Acute respiratory distress syndrome, Petechiae, Cerebral hemorrhage, Patent ductus arteriosus, Re...	OMIM:617397
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem, Agenesis o...	OMIM:620200
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Microcephaly, Aggressive behavior, Hydrocephalus, Simplified gyral pattern, Perive...	OMIM:619470
Developmental And Epileptic Encephalopathy 97	Stereotypical hand wringing, Ventriculomegaly	OMIM:619561
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Microcephaly, Aqueductal stenosis, Abnormal repetitive mannerisms, Hydrocephalus, ...	OMIM:619512
Dural Sinus Malformation	Pulsatile tinnitus, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrha...	ORPHA:97339
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein a...	OMIM:606763
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Hyperactivity, Short stature, Decreased response to growth hormone stimulation test, Microcephaly...	OMIM:615286
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Decreased ...	OMIM:617092
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Hyperactivity, Microcephaly, Lateral ventricle dilatation, Hypoplasia o...	OMIM:617751
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Gastroesophageal reflux, Attention deficit hyperactivity disorder,...	ORPHA:250994
Ciliary Dyskinesia, Primary, 27	Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Rhinitis, Respirator...	OMIM:615504
Intellectual Developmental Disorder, Autosomal Dominant 56	Impulsivity, Lateral ventricle dilatation, Pontocerebellar atrophy, Secondary microcephaly, High ...	OMIM:617854
Alexander Disease	Cerebral calcification, Megalencephaly, Aqueductal stenosis, Hydrocephalus, Self-injurious behavi...	ORPHA:58
Bilateral Striopallidodentate Calcinosis	Intrauterine growth retardation, Cerebral calcification, Ventriculomegaly, Microcephaly	ORPHA:1980
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Multiple Mitochondrial Dysfunctions Syndrome 5	Growth delay, Pachygyria, Ventriculomegaly, Microcephaly	OMIM:617613
Vacterl With Hydrocephalus	Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Cryptorchidism, Tracheoesop...	ORPHA:3412
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Dilated cardiomyopath...	ORPHA:280679
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Ciliary dyskinesia, Abnormal respiratory motile cilium morphology	OMIM:215520
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr...	ORPHA:90065
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Intellectual Developmental Disorder, Autosomal Recessive 46	Short stature, Aggressive behavior, Large for gestational age, Growth delay, Self-injurious behav...	OMIM:616116
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Frontal polymicrogyria, Lateral ventricle dilatation, Molar too...	OMIM:608629
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms	OMIM:618801
Epilepsy, Progressive Myoclonic, 9	Microglossia, Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly	OMIM:616540
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Otitis media	OMIM:312863
Slc35A2-Cdg	Cerebral white matter atrophy, Short stature, Abnormal midbrain morphology, Failure to thrive in ...	ORPHA:356961
Leukoencephalopathy With Vanishing White Matter 4	Corpus callosum atrophy, Cerebral cortical atrophy, Leukoencephalopathy, Ventriculomegaly	OMIM:620314
Alexander Disease Type I	Cachexia, Hydrocephalus, Abnormal thalamic MRI signal intensity, Abnormal cerebral white matter m...	ORPHA:363717
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Apnea, Micrognathia, Subependymal cysts, Cardiomyopathy, Lateral ventricle ...	OMIM:600721
Mehmo Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Aggressive beha...	OMIM:300148
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Inappropriate laughter, Ventriculomegaly	OMIM:619323
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Intrauterine growth retardation	ORPHA:1788
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilata...	OMIM:607485
Intellectual Developmental Disorder, Autosomal Recessive 69	Ventriculomegaly, Microcephaly	OMIM:618383
Pfeiffer Syndrome Type 1	Aqueductal stenosis, High palate	ORPHA:93258
Glutamine Deficiency, Congenital	Neonatal respiratory distress, Apnea, Subependymal cysts, Lateral ventricle dilatation, Bradycard...	OMIM:610015
Fried Syndrome	Hydrocephalus, Cerebral calcification, High palate, Aggressive behavior	ORPHA:85335
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Small for gestational age, Microcephaly	OMIM:619278
Paganini-Miozzo Syndrome	Mandibular prognathia, Posteriorly rotated ears, Lateral ventricle dilatation, Microtia, Low-set ...	OMIM:301025
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Microcephaly, Aggressive behavior, High, narrow palate, Cerebral atrophy, Cleft p...	ORPHA:464738
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventricul...	ORPHA:85179
Combined Oxidative Phosphorylation Defect Type 39	Microcephaly, Corpus callosum atrophy, Cryptorchidism, Deep white matter hypodensities, Cerebral ...	ORPHA:565624
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Skin rash	ORPHA:26
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Cerebral white matter atrophy, Lateral ventricle dilatation, Abnormal caudate nucleus morphology,...	ORPHA:2148
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Short stature, Small for gestational age, Microcephaly, Cryptorchidism, Cerebral atrophy, Lateral...	OMIM:619847
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Small for gestational age, Microcephaly, Severe postnatal growth retard...	ORPHA:3078
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve...	ORPHA:2185
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Polymicrogyria, Agenesis o...	ORPHA:250972
Pfeiffer Syndrome Type 3	Intestinal malrotation, Aqueductal stenosis, Cleft palate, High palate, Anal atresia	ORPHA:93260
Simpson-Golabi-Behmel Syndrome, Type 2	High palate, Obesity, Ventriculomegaly	OMIM:300209
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Hyperintensity of cerebral white matter on MRI, Cerebral dysmyelination, Ventriculomegaly, Increa...	OMIM:611722
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h...	ORPHA:331
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Agyria, Aganglionic megacolon, Microcephaly, Hypoplastic anterior limbs...	ORPHA:171680
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Hydrocephalus, Obesity, Cerebral atrophy, Thin corpus callosum, Polyphagia, ...	OMIM:616521
Craniosynostosis 6	Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da...	OMIM:616602
Malan Overgrowth Syndrome	Lateral ventricle dilatation, Hypoplasia of the brainstem, High palate, Hypoplasia of the corpus ...	ORPHA:420179
Aicardi Syndrome	Spina bifida, Microcephaly, Pachygyria, Postnatal growth retardation, Partial agenesis of the cor...	OMIM:304050
X-Linked Intellectual Disability, Wilson Type	Growth delay, Lateral ventricle dilatation, Hydrocele testis, Microcephaly	ORPHA:85290
Temple Syndrome	Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ...	ORPHA:254516
Microcephaly-Cardiomyopathy Syndrome	Short stature, Microcephaly, High, narrow palate, Intrauterine growth retardation, Ventriculomegaly	ORPHA:2515
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324703
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Coiled sperm flagell...	OMIM:618433
Mucus Inspissation Of Respiratory Tract	Chronic pulmonary obstruction, Chronic sinusitis, Bronchiectasis	OMIM:253240
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre...	OMIM:613953
Ventriculomegaly With Defects Of The Radius And Kidney	Vascular dilatation, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Ciliary Dyskinesia, Primary, 19	Nasal polyposis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Rhinitis, Re...	OMIM:614935
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly, Pachygyria	OMIM:614870
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Postnatal growth retardation, Abnormal repetitive mannerisms, Partial agenesis of the corpus call...	ORPHA:300570
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Intraventricular hemorrhage, Recurrent...	ORPHA:420741
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Aggressive behavior, Microcephaly, Inappropriate laughter, Bruxism, Abnormal repetitive mannerism...	OMIM:619150
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Self-injurious behavior...	OMIM:620075
Ciliary Dyskinesia, Primary, 22	Neonatal respiratory distress, Nasal polyposis, Bronchiectasis, Decreased nasal nitric oxide, Abs...	OMIM:615444
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Chronic sinusitis, Otitis media, High-frequency hearing impairment	OMIM:300455
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Growth delay, Intrauterine growth retardation, Abnormal lateral ventricle morphology, Hypoplasia ...	ORPHA:488635
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of t...	OMIM:619302
Adams-Oliver Syndrome 2	Microcephaly, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Polymicrogyria	OMIM:614219
Catel-Manzke Syndrome	Short stature, Cleft palate, Glossoptosis, Failure to thrive, Ventriculomegaly	ORPHA:1388
Hsd10 Disease	Microcephaly, Postnatal growth retardation, Gastrointestinal dysmotility, Frontotemporal cerebral...	ORPHA:391417
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Type II lissencephaly, Ventriculomegaly	OMIM:614830
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Ciliary dyskinesia, Abnormal respiratory motile cilium morphology	OMIM:225050
3-Hydroxyisobutyric Aciduria	Cerebral calcification, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Intrauterine gro...	ORPHA:939
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, High, narrow palate, Hydrocephalus, Ileus, ...	OMIM:620156
Developmental And Epileptic Encephalopathy 36	Abnormal bleeding, Hydrocephalus, Low-set ears, Microretrognathia	OMIM:300884
Biemond Syndrome Ii	Hydrocephalus, Short stature	OMIM:210350
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Cleft palate, Molar tooth sign on MRI, Agenesis of corpus callosum, V...	OMIM:614120
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, High, narrow palate, Hydrocephalus, Submucous cleft hard palate, Growth delay, An...	OMIM:612863
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short stature, Microcephaly, Growth delay, Gastroesophageal reflux, Hypoplasia of the corpus call...	ORPHA:1495
Macdermot-Winter Syndrome	Intrauterine growth retardation, Ventriculomegaly, Microcephaly	OMIM:247990
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microcephaly, Lateral ventricle dilatation, High palate, Hypoplasia of the corpus callosum, Thin ...	OMIM:614105
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Aggressive behavior, Cerebral atrophy, Leukoencephalopathy, Lateral ven...	ORPHA:572798
Autosomal Recessive Primary Microcephaly	Short stature, Microcephaly, Growth delay, Hypoplasia of the frontal lobes, Pachygyria, Agenesis ...	ORPHA:2512
Autosomal Recessive Spastic Paraplegia Type 53	Cortical dysplasia, Failure to thrive, Ventriculomegaly, Microcephaly	ORPHA:319199
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased response to growth hormone stimulation test, Elevated circulating luteinizing hormone l...	OMIM:300845
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Abnormal cerebral white matter morphology, Dysgyria, Hypo...	ORPHA:352682
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo...	ORPHA:53719
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Porencephalic cyst, Subcortical band heterotopia, Leukoen...	OMIM:615191
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Ventriculomegaly, Reduced cerebral white matter volume, Microcephaly, Hypoplasia of the corpus ca...	OMIM:617977
Central Precocious Puberty In Male	Acne, Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma	ORPHA:649929
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Supernumerary nipple, Aggressive behavior, Pyloric stenosis, Submucous cleft hard palate, Abnorma...	ORPHA:457279
Spastic Paraplegia 47, Autosomal Recessive	Short stature, Microcephaly, Overweight, High palate, Hypoplasia of the corpus callosum, Abnormal...	OMIM:614066
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Hypoplas...	OMIM:618914
Febrile Infection-Related Epilepsy Syndrome	Sinusitis, Cough	ORPHA:163703
Developmental And Epileptic Encephalopathy 59	Self-injurious behavior, Ventriculomegaly	OMIM:617904
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Abnormal cerebrospinal fluid morphology, Cerebral atrophy, Abnormal cerebral white matter morphol...	ORPHA:314404
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pulmonary obstruction, A...	ORPHA:1163
2,4-Dienoyl-Coa Reductase Deficiency	Microcephaly, Hydrocephalus, Cerebral atrophy, Increased CSF lactate, Colpocephaly, Increased CSF...	OMIM:616034
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Short stature, Reduced cerebral white matter volume, Hydrocephalus, Hypoplasia of the brainstem, ...	OMIM:618174
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Abnormal globus pallidus morphology, Cleft palate, High palate, Gastroesophageal re...	OMIM:618603
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324708
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular leukomalacia, Periventricular cysts, Hypoplasia of the brainstem, Hypoplasia of t...	ORPHA:255138
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Overweight, Hyperintensity of cerebral white matter on MRI,...	ORPHA:2822
Leukoencephalopathy, Cystic, Without Megalencephaly	Cerebral calcification, Microcephaly, Leukoencephalopathy, Focal white matter lesions, Ventriculo...	OMIM:612951
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Craniofacial Dyssynostosis With Short Stature	Short stature, Pyloric stenosis, Hydrocephalus, Cryptorchidism, Hypoplasia of the corpus callosum...	OMIM:218350
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Sinusitis, Recurrent bacterial upper respiratory tract infections, Asthma, Atopic dermatitis, Rhi...	ORPHA:70593
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Microcephaly, Aggressive behavior, Cerebral atrophy, Hypoplasia of th...	ORPHA:500180
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi...	OMIM:618695
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper...	ORPHA:136
Central Neurocytoma	Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus	ORPHA:73256
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Williams-Beuren Region Duplication Syndrome	Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ...	OMIM:609757
Den Hoed-De Boer-Voisin Syndrome	Lactose intolerance, Ventriculomegaly, Microcephaly, Overweight, Obesity, Lateral ventricle dilat...	OMIM:619229
Fragile X Syndrome	Mandibular prognathia, Sinusitis, Macroorchidism, Protruding ear, Ascending tubular aorta aneurys...	ORPHA:908
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
X-Linked Intellectual Disability, Cantagrel Type	Gastroesophageal reflux, Hypoplasia of the corpus callosum, Abnormal repetitive mannerisms, Cereb...	ORPHA:85277
Familial Scaphocephaly Syndrome, Mcgillivray Type	High palate, Ventriculomegaly	ORPHA:168624
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Lateral ventricle dilatation, Short stature	OMIM:619995
Neurodevelopmental Disorder With Involuntary Movements	Microcephaly, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Self-injurious beha...	OMIM:617493
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Aortic aneurysm	ORPHA:261102
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, Recurrent upper respiratory...	ORPHA:277
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Abnormal cerebral cortex morphology, Hydrocephalus, Abnormal brainstem morph...	ORPHA:163961
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Bronchiectasis, Chronic otitis media, Emphysema, Chronic sinusitis	OMIM:604571
Koolen-De Vries Syndrome Due To A Point Mutation	Eczema, Decreased response to growth hormone stimulation test, Tracheomalacia, Testicular neoplas...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Eczema, Decreased response to growth hormone stimulation test, Tracheomalacia, Testicular neoplas...	ORPHA:363958
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Lobulated tongue, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Nasu-Hakola Disease	Cerebral calcification, Hydrocephalus, Functional abnormality of the gastrointestinal tract, Disi...	ORPHA:2770
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Trisomy 5P	Short stature, Obesity, Ventriculomegaly	ORPHA:1742
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bifid uvula, Cleft palate	OMIM:258320
Circumvallate Placenta Syndrome	Intracranial hemorrhage, Respiratory insufficiency	OMIM:215550
Tubulinopathy-Associated Dysgyria	Ventriculomegaly, Microcephaly, Hypoplasia of the pons, Abnormal brainstem morphology, Attention ...	ORPHA:467166
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Periventricular leukomalacia, Small for gestational age, Microcephaly	OMIM:618302
Glycosylphosphatidylinositol Biosynthesis Defect 17	Aggressive behavior, Dysplastic corpus callosum, Growth delay, High palate, Primary microcephaly,...	OMIM:618010
Frontal Encephalocele	Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor...	ORPHA:1931
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Short stature, Simplified gyral pattern, Thick corpus callosum, Hypoplasia of the brainstem, Vent...	OMIM:618273
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ...	ORPHA:229717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Dandy-Walker malformation, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simplifi...	OMIM:613153
Cog5-Cdg	Cerebral white matter atrophy, Diffuse cerebral atrophy, Short stature, Microcephaly, Cryptorchid...	ORPHA:263487
Aicardi-Goutieres Syndrome 4	Cerebral calcification, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleiocytosis, Progressiv...	OMIM:610333
Gómez-López-Hernández Syndrome	Hydrocephalus, Abnormal brainstem morphology, Short stature	ORPHA:1532
Congenital Toxoplasmosis	Cerebral calcification, Failure to thrive in infancy, Microcephaly, Hydrocephalus, Intrauterine g...	ORPHA:858
Peho-Like Syndrome	Progressive microcephaly, Lissencephaly, Hypoplasia of the corpus callosum, Pachygyria, Polymicro...	OMIM:617507
Glutaric Acidemia I	Hydrocephalus, Failure to thrive, Lateral ventricle dilatation	OMIM:231670
Pontocerebellar Hypoplasia Type 2	Ventriculomegaly, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus callos...	ORPHA:2524
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short stature, High, narrow palate, Hydrocephalus, Obesity, Azoospermia	ORPHA:2183
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Agenesi...	ORPHA:1528
Congenital Disorder Of Glycosylation, Type Iig	Short stature, Rhizomelia, Failure to thrive in infancy, Microcephaly, Postnatal growth retardati...	OMIM:611209
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Microcephaly, Cerebral atrophy, Stereotypical hand wringing, Self-injurious behavior, Inappropria...	OMIM:614254
Developmental And Epileptic Encephalopathy 70	Cryptorchidism, Cerebral cortical atrophy, Ventriculomegaly, Microcephaly	OMIM:618298
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Ventriculomegaly	ORPHA:324416
Biemond Syndrome Type 2	Hydrocephalus, Short stature, Obesity, Delayed puberty	ORPHA:141333
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Caudate atrophy, Temporal cortical atrophy, Attention deficit hyperactivity disorder, Frontal cor...	ORPHA:137831
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory...	OMIM:615451
Bilateral Frontoparietal Polymicrogyria	Cerebral dysmyelination, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Hypoplasia of ...	ORPHA:101070
Dengue Fever	Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arrest,...	ORPHA:99828
Familial Afibrinogenemia	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding	ORPHA:98880
Activated Pi3K-Delta Syndrome	Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Recurrent upper and lower respirato...	ORPHA:397596
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Microretrognathia, Vascular dilatation, Hydrocephalus, Patent ductus ar...	OMIM:220220
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, External ear malformation, Bronch...	ORPHA:33110
Cardiomyopathy, Familial Restrictive, 1	Ventriculomegaly	OMIM:115210
Joubert Syndrome 31	Molar tooth sign on MRI, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:617761
Neurocutaneous Melanocytosis	Meningocele, Intracranial hemorrhage, Dandy-Walker malformation, Infectious encephalitis, Ventric...	ORPHA:2481
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Hamartoma of tongue, Microcephaly, Bilateral cryptorchidism, Partial ag...	ORPHA:434179
Diencephalic Syndrome	Hydrocephalus, Cachexia, Decreased body weight	ORPHA:1672
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Short stature, Aggressive behavior, Microcephaly, Hydrocephalus, Agi...	OMIM:300558
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hyperactivity, Microcephaly, Aggressive behavior, Cortical dysplasia, Hypoplasia of the corpus ca...	ORPHA:457260
Pontocerebellar Hypoplasia, Type 9	Hypoplasia of the pons, Macroglossia, Secondary microcephaly, Hypoplasia of the corpus callosum, ...	OMIM:615809
Clcn4-Related X-Linked Intellectual Disability Syndrome	Hyperactivity, Microcephaly, Aggressive behavior, Cryptorchidism, Abnormal cerebral white matter ...	ORPHA:485350
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus	ORPHA:398189
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Christianson Syndrome	Cachexia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Gastroesophageal reflux, Inapp...	ORPHA:85278
Mitochondrial Complex I Deficiency, Nuclear Type 31	Failure to thrive, Ventriculomegaly	OMIM:618251
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Intraventricular hemorrhage, Skin rash	ORPHA:79284
Charge Syndrome	Short stature, Microcephaly, Aqueductal stenosis, Postnatal growth retardation, Abnormal soft pal...	ORPHA:138
Distal Deletion 10Q	Failure to thrive, Short stature, Aggressive behavior, Microcephaly, Postnatal growth retardation...	ORPHA:96148
Acrofacial Dysostosis 1, Nager Type	Short stature, Aganglionic megacolon, Microcephaly, Aqueductal stenosis, Hydrocephalus, Velophary...	OMIM:154400
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Aggressive behavior, Microcephaly, Cleft palate, Hypoplasia of the corpus callosum...	OMIM:300958
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Hydrocephalus, Macrotia	OMIM:300886
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Bainbridge-Ropers Syndrome	Failure to thrive, Intestinal malrotation, Supernumerary nipple, Microcephaly, Cryptorchidism, Gr...	OMIM:615485
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Hypoplasia of the corpus callosum	ORPHA:401815
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Cerebral atrophy, Ventriculomegaly, Microcephaly	OMIM:617051
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Chronic sinusitis	OMIM:613502
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Perisylvian polymicrogyria, Absent uvula, Ventriculomegaly	OMIM:616531
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Diffuse cerebral atrophy, Cerebral cortical atrophy, Ventriculomegaly	OMIM:615362
Neurofibromatosis, Type I	Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Pheochromocytoma, Parathyroid ad...	OMIM:162200
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Failure to thrive, Short stature, Microcephaly, Aggressive behavior, Hydrocephalus, Self-injuriou...	OMIM:619833
6Q25 Microdeletion Syndrome	Short stature, Microcephaly, Cleft palate, High palate, Failure to thrive, Agenesis of corpus cal...	ORPHA:251056
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrh...	ORPHA:183
Moyamoya Disease	Ventriculomegaly	ORPHA:2573
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus c...	OMIM:615599
Microhydranencephaly	Short stature, Microcephaly, Growth delay, Hypoplasia of the brainstem, Hydranencephaly, Pachygyr...	OMIM:605013
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly, Obesity	ORPHA:521390
Ciliary Dyskinesia, Primary, 44	Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit...	OMIM:618781
Developmental And Epileptic Encephalopathy 9	Attention deficit hyperactivity disorder, Ventriculomegaly, Aggressive behavior	OMIM:300088
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Midline brainstem ...	OMIM:617542
Juvenile Huntington Disease	Hyperactivity, Neuronal loss in basal ganglia, Weight loss, Abnormal cerebral white matter morpho...	ORPHA:248111
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc...	OMIM:615481
Leukodystrophy, Hypomyelinating, 24	Severe short stature, Microcephaly, Cerebral atrophy, Thin corpus callosum, Ventriculomegaly	OMIM:619851
Cerebral Cavernous Malformations	Intracranial hemorrhage, Cerebral cavernous malformation	OMIM:116860
17P13.3 Microduplication Syndrome	High palate, Hypoplasia of the corpus callosum, Ventriculomegaly	ORPHA:217385
Fanconi Anemia, Complementation Group W	Decreased response to growth hormone stimulation test, Microcephaly, Growth delay, Intrauterine g...	OMIM:617784
Sneddon Syndrome	Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Developmental And Epileptic Encephalopathy 54	Ventriculomegaly, Microcephaly	OMIM:617391
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Dandy-Walker malformation, Microcephaly, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem...	OMIM:225790
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Protruding tongue, Colpocephaly, Secondary microcephaly, Ch...	OMIM:620352
Scedosporiosis	Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, Bronchial breath sound, ...	ORPHA:449280
Congenital Muscular Dystrophy With Intellectual Disability	Microcephaly, Abnormality of the tongue muscle, Cryptorchidism, Abnormal pons morphology, Hypopla...	ORPHA:370968
Pontocerebellar Hypoplasia, Type 16	Hypoplasia of the pons, Cerebral cortical atrophy, Dysphagia, Thin corpus callosum, Ventriculomegaly	OMIM:619527
Aicardi-Goutieres Syndrome 9	Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, C...	OMIM:619487
Neurodevelopmental Disorder With Dystonia And Seizures	Self-injurious behavior, Cerebral cortical atrophy, Ventriculomegaly, Intrauterine growth retarda...	OMIM:619922
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum, Thyroid C cell hype...	OMIM:300952
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Cryptorchidism, High palate, Attention deficit hyperactivity disorder, ...	OMIM:615433
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Hypoplasia of the pons, Dysplastic corpus callosum, Failure to thrive, Microcephaly	OMIM:618276
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Short stature, Aggressive behavior, Cryptorchidism, Cortical dysplasia, Simplified...	OMIM:300354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Hypoplasia of the pons, Ventriculomegaly, Microcephaly	OMIM:613151
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Posteriorly placed anus, Hydrocephalus, Myelomeningocele, Failure to thrive,...	OMIM:306955
Lissencephaly 8	Occipital encephalocele, Type II lissencephaly, Microcephaly, Hypoplasia of the brainstem, Hypopl...	OMIM:617255
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydrocephalus, Low-set ears, Overfolded helix, Hearing impairment	ORPHA:251046
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Frontal polymicrogyria, Cerebral dysmyelination, Hypoplasia of the pons, Perisylvian polymicrogyr...	OMIM:606854
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans...	ORPHA:774
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	High palate, Ventriculomegaly, Primary microcephaly	ORPHA:2172
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Cleft soft palate, Choroid plexus cyst, Lateral ventricle dilatation, Abnormal caudate nucleus mo...	ORPHA:293725
Ataxia-Deafness-Intellectual Disability Syndrome	Cerebral cortical atrophy, Ventriculomegaly	ORPHA:1188
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Secondary microcephaly, Hypoplasia of the corpus callosum, Cerebral atrophy	ORPHA:397951
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Non-Functioning Paraganglioma	Pulsatile tinnitus, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitin...	ORPHA:94080
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Conjunctivitis, Chronic sinusitis	OMIM:612692
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Microcephaly, Simplified gyral pattern, Cerebral atrophy, Progressive microcephaly, High palate, ...	OMIM:615760
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microcephaly, Hydrocephalus, Macroglossia, Hypoplasia of the brainstem, Hypoplasia of the corpus ...	OMIM:613155
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Gas...	ORPHA:727
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	High, narrow palate, Cerebral atrophy, Abnormal cerebral white matter morphology, Self-injurious ...	OMIM:617268
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Acalvaria	Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Yellow Nail Syndrome	Sinusitis, Dyspnea, Bronchiectasis, Rhinitis, Hypoplasia of lymphatic vessels, Cough, Pulmonary a...	ORPHA:662
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ve...	OMIM:618577
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Stroke, Cerebral hemorrhage	OMIM:300049
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Short stature, Microcephaly, Protruding tongue, Dysplastic corpus callosum, Si...	OMIM:619179
Hemimegalencephaly	Pachygyria, Hemimegalencephaly, Hyperintensity of cerebral white matter on MRI, Focal cortical dy...	ORPHA:99802
Hydranencephaly	Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th...	ORPHA:2177
Congenital Muscular Dystrophy Without Intellectual Disability	Abnormal cerebral white matter morphology, Pachygyria, Ventriculomegaly, Microcephaly	ORPHA:370980
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Immunodeficiency 102	Recurrent skin infections, Recurrent upper respiratory tract infections, Bronchiectasis, Recurren...	OMIM:301082
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Short stature, Postnatal growth retardation, Cleft palate, Hypoplasia of the corpus callosum, Ven...	OMIM:620210
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Short stature, Microcephaly, Aggressive behavior, High palate, Attention deficit h...	OMIM:618342
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect...	OMIM:611884
Prader-Willi Syndrome Due To Translocation	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:177907
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth r...	ORPHA:272
Cornelia De Lange Syndrome 2	Short stature, Microcephaly, Postnatal growth retardation, High palate, Gastroesophageal reflux, ...	OMIM:300590
Developmental And Epileptic Encephalopathy 99	Microcephaly, Perisylvian polymicrogyria, Thick corpus callosum, Frontotemporal cerebral atrophy,...	OMIM:619606
Intellectual Developmental Disorder, Autosomal Dominant 51	Failure to thrive, Unilateral cryptorchidism, Aggressive behavior, Cryptorchidism, Fixated intere...	OMIM:617788
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Patent ductus arteriosus, Hydrocephalus, Low-set ears, Micrognathia	ORPHA:1516
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Prolonged prothrombin time, Increased CSF lactate	OMIM:619055
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Dysphagia, Increased CSF lactate...	ORPHA:500144
Neuronal Intranuclear Inclusion Disease	CSF pleocytosis, Increased CSF protein concentration, Leukoencephalopathy, Ventriculomegaly	OMIM:603472
Microcephaly 27, Primary, Autosomal Dominant	Cryptorchidism, Simplified gyral pattern, Extra-axial cerebrospinal fluid accumulation, Primary m...	OMIM:619180
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Intracranial ...	ORPHA:91350
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Small pituitary gland, Hypoplasia of the corpus callosum, Dispropor...	OMIM:619479
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal respiratory distress, Apnea, Posteriorly rotated ears, Antenatal intracerebral hemorrhag...	OMIM:608836
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Sensorineural hearing...	ORPHA:47
Maternal Uniparental Disomy Of Chromosome 1	Short stature, Growth delay, Gastroesophageal reflux, Failure to thrive, Ventriculomegaly	ORPHA:251009
Temple Syndrome	Decreased testicular size, Short stature, Small for gestational age, Overweight, Cryptorchidism, ...	OMIM:616222
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Dysplastic corpus callosum, Cerebral atrophy, Macroglossia, Extra-axial cerebrospinal fluid accum...	OMIM:616900
Multiple Mitochondrial Dysfunctions Syndrome 3	Microcephaly, Cerebral atrophy, Increased CSF lactate, High palate, Hypoplasia of the corpus call...	OMIM:615330
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Megalencephaly, Hydrocephalus, Cavum septum pellucidum, Polymicrogyria, Ventriculomegaly	OMIM:602501
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, High palate, Abnormal repetitive mannerisms, Ventriculomegaly	OMIM:615637
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Short stature, Small for gestational age, Microcephaly, Cryptorchidism...	OMIM:300957
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Extra-axial cerebrospinal fluid a...	OMIM:617669
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Recurrent pharyngitis, Recurrent pneumonia, Synovitis, Art...	ORPHA:47612
Meckel Syndrome, Type 4	Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Bile duct pro...	OMIM:611134
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Narp Syndrome	Abnormal basal ganglia MRI signal intensity, Short stature, Corticospinal tract atrophy, Cerebral...	ORPHA:644
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Type II lissencephaly, Microcephaly, Hypoplasi...	ORPHA:370959
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial...	ORPHA:449285
Nephronophthisis 18	Tubulointerstitial nephritis, Hydrocephalus, Hypertension	OMIM:615862
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hydrocephalus, Pyloric stenosis, Ventriculomegaly	OMIM:616355
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Short stature, Small for gestational age, Microcephaly, Lateral ventric...	OMIM:619869
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor...	ORPHA:464321
Dworschak-Punetha Neurodevelopmental Syndrome	Dilation of Virchow-Robin spaces, Dysplastic corpus callosum, Cupped ear, Large earlobe, Colpocep...	OMIM:619955
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction, Exertional dyspnea	OMIM:133100
Hemidystonia-Hemiatrophy Syndrome	Advanced pneumatization of cranial sinuses, Abnormal paranasal sinus morphology	ORPHA:306741
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Granulomatosis With Polyangiitis	Episcleritis, Subglottic stenosis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized p...	OMIM:608710
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Ecchymosis, Infectious encephali...	ORPHA:36234
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Hydrocephalus, Sensorineural hear...	OMIM:109120
Developmental And Epileptic Encephalopathy 1	Growth delay, Dysphagia, Ventriculomegaly, Microcephaly	OMIM:308350
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Microcephaly, Malabsorption, Cryptorchidism, Pachygyria, Agenesis of corpu...	ORPHA:452
Pallister-Hall-Like Syndrome	Occipital encephalocele, Short stature, Microcephaly, Hydrocephalus, Microglossia, Cleft palate, ...	OMIM:241800
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Ventriculomegaly	OMIM:206570
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Microcephaly, Cerebral atrophy, Increased CSF lactate, Basal ganglia c...	OMIM:312170
5Q14.3 Microdeletion Syndrome	Frontal cortical atrophy, Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum, Vent...	ORPHA:228384
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ...	OMIM:608647
Microcephalic Primordial Dwarfism, Toriello Type	Intrauterine growth retardation, Severe short stature, Ventriculomegaly, Microcephaly	ORPHA:2643
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Polymicrogyria, Megalencephaly	ORPHA:83473
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Hydrocephalus, Respiratory insufficiency, Conductive hearing impairmen...	ORPHA:93262
Ciliary Dyskinesia, Primary, 33	Conductive hearing impairment, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recu...	OMIM:616726
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Hydrocephalus, Conotruncal defect, Anotia, Microtia	OMIM:243440
Lissencephaly 6 With Microcephaly	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha...	OMIM:616212
1Q44 Microdeletion Syndrome	Short stature, Intestinal malrotation, Microcephaly, Hydrocephalus, Growth delay, High palate, Ag...	ORPHA:238769
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Carious teeth, Cryptorchidism, Hydrocephalus, Pulmonic stenosi...	ORPHA:2701
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Plasminogen Deficiency, Type I	Hydrocephalus, Recurrent upper respiratory tract infections, Conjunctivitis, Periodontitis, Dandy...	OMIM:217090
Noonan Syndrome 12	Anteriorly placed anus, Decreased response to growth hormone stimulation test, Ventriculomegaly	OMIM:618624
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Noonan Syndrome 14	High, narrow palate, Lateral ventricle dilatation, Short stature, Cryptorchidism	OMIM:619745
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Attention deficit hyperactivity disorder, Failure to thrive, Ventriculomegaly, Microcephaly	OMIM:619556
Rheumatic Fever	Pericarditis, Sinusitis, Epistaxis, Myocarditis, Recurrent pharyngitis, Respiratory insufficiency...	ORPHA:3099
Halperin-Birk Syndrome	Colpocephaly, Pseudobulbar paralysis, Gastroesophageal reflux, High palate, Intrauterine growth r...	OMIM:618651
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Short stature, Ventriculomegaly	OMIM:230650
Ciliary Dyskinesia, Primary, 20	Productive cough, Absent outer dynein arms, Pulmonary artery stenosis, Recurrent pneumonia, Bronc...	OMIM:615067
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Cornelia De Lange Syndrome 5	Short stature, Microcephaly, Postnatal growth retardation, Cryptorchidism, Cleft palate, Truncal ...	OMIM:300882
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti...	OMIM:307200
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eczema, Eosinophilic infiltration of the esophagus, Subarachnoid hemorrhage,...	OMIM:243700
Gabriele-De Vries Syndrome	Cryptorchidism, Cortical dysplasia, Lateral ventricle dilatation, High palate, Attention deficit ...	OMIM:617557
Kohlschutter-Tonz Syndrome	Cerebral atrophy, Ventriculomegaly, Microcephaly	OMIM:226750
Bresek Syndrome	Aganglionic megacolon, Microcephaly, Cryptorchidism, Hydrocephalus, Cleft palate, Growth delay, N...	ORPHA:85284
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Recurrent vulvovag...	ORPHA:331235
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Short stature, Ventriculomegaly	OMIM:611555
Ciliary Dyskinesia, Primary, 25	Neonatal respiratory distress, Productive cough, Chronic pulmonary obstruction, Recurrent pneumon...	OMIM:615482
Congenital Disorder Of Glycosylation, Type Ii	Short stature, Microcephaly, High palate, Gastroesophageal reflux, Decreased body weight, Focal T...	OMIM:607906
Thanatophoric Dysplasia Type 2	Encephalocele, Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Holoprosenceph...	ORPHA:93274
Goldberg-Shprintzen Megacolon Syndrome	Short stature, Aganglionic megacolon, Microcephaly, Cleft palate, Hypoplasia of the corpus callos...	ORPHA:66629
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Baraitser-Winter Syndrome 2	Short stature, Secondary microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ve...	OMIM:614583
Coach Syndrome 2	Hypertension, Hydrocephalus, Apneic episodes in infancy, Agenesis of corpus callosum	OMIM:619111
Developmental And Epileptic Encephalopathy 65	Cerebral atrophy, Ventriculomegaly, Microcephaly	OMIM:618008
Mucopolysaccharidosis Type 1	Sinusitis, Apnea, Congestive heart failure, Hydrocephalus, Sensorineural hearing impairment, Coug...	ORPHA:579
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension	OMIM:263400
Pseudo-Torch Syndrome 3	Apnea, Cerebral hemorrhage, Lymphadenitis, Respiratory insufficiency, Hypertension	OMIM:618886
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Short stature, Decreased response to growth hormone stimulation test, Abnormal rep...	OMIM:615873
Galloway-Mowat Syndrome 5	Periventricular leukomalacia, Pachygyria, Ventriculomegaly, Primary microcephaly	OMIM:617731
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ...	OMIM:620317
Chiari Malformation Type Ii	Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Dysphagia, Agenesis of corpus...	OMIM:207950
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A...	ORPHA:183675
Syndromic Recessive X-Linked Ichthyosis	Short stature, Abnormal stomach morphology, Cryptorchidism, Lissencephaly, Attention deficit hype...	ORPHA:281090
Primary Angiitis Of The Central Nervous System	Cerebral vasculitis, Transient ischemic attack, CSF pleocytosis, Intracranial hemorrhage, Stroke,...	ORPHA:140989
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Osteomyelitis, Cerebral hemorrhage, Panuveitis, Panniculitis, Optic neuritis	OMIM:301081
Mitochondrial Complex I Deficiency, Nuclear Type 37	Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Increased CSF lactate, Growth delay, Hig...	OMIM:619272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of the brainstem, Polymicr...	OMIM:615181
Stxbp1-Related Encephalopathy	Hyperactivity, Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Micrognathia, Bronchiectasis, Low-set ears, Malar flattening	OMIM:242860
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Partial agenesis of the corpus callosum, Cleft palate, Cavum septum pellucidum, Ventriculomegaly,...	OMIM:619074
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Cryptorchidism, Secondary microcephaly, Ventriculomegaly	OMIM:613730
Cog8-Cdg	Ventriculomegaly, Protein-losing enteropathy, Atrophy/Degeneration affecting the brainstem, Failu...	ORPHA:95428
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Reduced cerebral white matter volume, Simplified gyral pattern, Increa...	OMIM:618253
Infantile Sialic Acid Storage Disease	Hydrocephalus, Failure to thrive, High palate, Cerebral atrophy	OMIM:269920
Joubert Syndrome 14	Encephalocele, Posteriorly rotated ears, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hyp...	OMIM:614424
Wiskott-Aldrich Syndrome	Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Otitis m...	ORPHA:906
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Pyridoxine-Dependent Epilepsy	Restlessness, Hypoplasia of the corpus callosum, Ventriculomegaly	ORPHA:3006
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cerebral calcification, Short stature, Cachexia, Microcephaly, Ventriculomegaly	ORPHA:1933
Lissencephaly, X-Linked, 2	High palate, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Decreased testicular size, V...	OMIM:300215
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Microcephaly, Cryptorchidism, Disproportionate short-limb short stature, Intrauterine growth reta...	ORPHA:2772
Intellectual Developmental Disorder, Autosomal Dominant 21	Short stature, Microcephaly, Cryptorchidism, Cleft palate, Ventriculomegaly	OMIM:615502
Cyclic Neutropenia	Pharyngitis, Sinusitis, Recurrent skin infections, Perianal abscess, Peritonitis, Enterocolitis, ...	ORPHA:2686
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco...	ORPHA:1946
Pierpont Syndrome	Small for gestational age, Abnormal cortical gyration, Cryptorchidism, Primary microcephaly, Vent...	ORPHA:487825
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hydrocephalus, Pericarditis	ORPHA:163596
Congenital Neuronal Ceroid Lipofuscinosis	Microcephaly, Neuronal loss in the cerebral cortex, Cerebral hypoplasia, Pachygyria, Agenesis of ...	ORPHA:168486
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short stature, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dys...	OMIM:618367
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Tubulointerstitial...	ORPHA:90068
Rasmussen Subacute Encephalitis	Hyperactivity, Abnormal cerebrospinal fluid morphology, Abnormal basal ganglia morphology, Subcor...	ORPHA:1929
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Micrognathia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Microtia, Laryngomalacia, ...	ORPHA:171839
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation	OMIM:612301
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Biliary, Renal, Neurologic, And Skeletal Syndrome	Short stature, Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Esophageal vari...	OMIM:619534
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Frontal cortical atrophy, Ventriculomegaly	ORPHA:206559
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su...	OMIM:227500
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage, Dentinogenesis imperfecta	OMIM:616507
Albers-Schönberg Osteopetrosis	Osteomyelitis, Mandibular osteomyelitis, Carious teeth, Hydrocephalus, Osteoarthritis, Arthritis,...	ORPHA:53
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Short stature, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:48431
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Increased CSF lactate, Short stature, Ventriculomegaly, Microcephaly	OMIM:619059
Orofaciodigital Syndrome Xvii	High, narrow palate, Short stature, Ventriculomegaly, Decreased body weight	OMIM:617926
49,Xxxyy Syndrome	Eunuchoid habitus, Abnormality of the testis size, Increased circulating gonadotropin level, Abno...	ORPHA:261534
Cerebral Visual Impairment	Intracranial hemorrhage, Hydrocephalus, Infectious encephalitis, Ischemic stroke	ORPHA:447788
Congenital Disorder Of Glycosylation, Type Iil	Abnormal cortical gyration, Microcephaly, Hydrocephalus, Esophageal varix, Cerebral atrophy, Grow...	OMIM:614576
Weiss-Kruszka Syndrome	Hearing impairment, Cupped ear, Protruding ear, Dextrotransposition of the great arteries, Colpoc...	OMIM:618619
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Cryptorchidism, Leukoencephalopathy, Aplasia/Hypoplasia of the corpus callosum, Failure to thrive...	ORPHA:88639
Radial Aplasia, X-Linked	Hydrocephalus, Anal atresia	OMIM:312190
Smith-Magenis Syndrome	Hyperactivity, Short stature, Velopharyngeal insufficiency, Self hugging, Increased body weight, ...	OMIM:182290
Li-Ghorbani-Weisz-Hubshman Syndrome	Attention deficit hyperactivity disorder, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:618974
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Polymicrogyria, Microcephaly	OMIM:618731
Weaver Syndrome	Absent septum pellucidum, Cryptorchidism, Hydrocele testis, Lateral ventricle dilatation, Polypha...	OMIM:277590
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Megalencephaly, Periventricular white matter hyperintensities, Cerebral white matter hypoplasia, ...	ORPHA:500533
Oxoglutarate Dehydrogenase Deficiency	Ventriculomegaly	OMIM:203740
Methylcobalamin Deficiency Type Cble	Microcephaly, Postnatal growth retardation, Hydrocephalus, Abnormal cerebral white matter morphol...	ORPHA:2169
49,Xyyyy Syndrome	Eunuchoid habitus, Abnormality of the testis size, Impulsivity, Increased circulating gonadotropi...	ORPHA:99330
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Esophageal atresia, Hydrocephalus, Cryptorchidism, Tracheoesophageal fistula, Growth delay, Holop...	ORPHA:77298
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Persistence of primary teeth, Mandibular osteomyelitis, Car...	OMIM:259710
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853
Immunodeficiency 32B	Pneumonia, Sinusitis, Bronchiectasis	OMIM:226990
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Hyperactivity, Megalencephaly, Large for gestational age, Cryptorchidism, Po...	ORPHA:457485
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency, Cardiomyopathy, Arrhyt...	ORPHA:2119
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele, Respiratory insufficiency, Microtia, Hearing impairment	ORPHA:1914
Krabbe Disease	Hydrocephalus, Failure to thrive, Increased CSF protein concentration, Diffuse cerebral atrophy	OMIM:245200
Thanatophoric Dysplasia	Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Low-set ears, Ventriculomegal...	ORPHA:2655
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Obesity	OMIM:601794
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage	OMIM:263300
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Retinal telangiectasia, Hydroceph...	OMIM:620157
Crouzon Syndrome	Hypoplasia of the maxilla, Hydrocephalus, Respiratory insufficiency, Conjunctivitis, Conductive h...	ORPHA:207
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,...	OMIM:615219
Complement Component 4B Deficiency	Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media	OMIM:614379
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis	OMIM:618449
4Q21 Microdeletion Syndrome	Growth delay, Self-injurious behavior, Agenesis of corpus callosum, Intrauterine growth retardati...	ORPHA:238750
Xq12-Q13.3 Duplication Syndrome	Abnormal basal ganglia MRI signal intensity, Short stature, Microcephaly, Cryptorchidism, Bulimia...	ORPHA:314389
Fanconi Anemia, Complementation Group I	Short stature, Absent septum pellucidum, Decreased response to growth hormone stimulation test, M...	OMIM:609053
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Secondary microcephaly, Ventriculomegaly	OMIM:617290
Meningioma	Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p...	ORPHA:2495
Spastic Paraplegia 75, Autosomal Recessive	Corpus callosum atrophy, Ventriculomegaly	OMIM:616680
Galloway-Mowat Syndrome 9	Microcephaly, Hiatus hernia, Secondary microcephaly, Cerebral cortical atrophy, Gastroesophageal ...	OMIM:619603
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Microcephaly, Abnormal cerebral white matter morphology, Macroglossia, Dysphagia, Pachygyria, Ven...	OMIM:606612
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Growth delay, Absence of intrinsic factor	OMIM:243320
Rhombencephalosynapsis	Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophagea...	ORPHA:59315
Tenorio Syndrome	Mandibular prognathia, Apnea, Raynaud phenomenon, Hydrocephalus, Recurrent pneumonia, Keratoconju...	OMIM:616260
Mosaic Trisomy 1	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Cleft palate	ORPHA:1692
Chromosome 19P13.13 Deletion Syndrome	Self-injurious behavior, Ventriculomegaly, Microcephaly	OMIM:613638
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Megalencephaly, Hydrocephalus, Thick corpus callosum, Hypoplasia of the corpus callosum, Pachygyr...	OMIM:603387
Houge-Janssens Syndrome 3	Microcephaly, Self-injurious behavior, Hypoplasia of the brainstem, High palate, Hypoplasia of th...	OMIM:618354
Emanuel Syndrome	Broad jaw, Truncus arteriosus, Delayed eruption of primary teeth, Micrognathia, Cryptorchidism, H...	OMIM:609029
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Microcephaly, Cryptorchidism, Macroglossia, Hypoplasia of the corpus callosum, Cerebral cortical ...	OMIM:613156
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Cryptorchidism, Hydrocephalus, Cleft palate, Secondary microcephaly, Lissencep...	OMIM:612938
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, Spinal dysraphism...	ORPHA:1926
Lacrimal Duct Defect	Sinusitis, Conjunctivitis	OMIM:149700
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Hogue-Janssen Syndrome 2	Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Vent...	OMIM:616362
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebral atrophy, Thin corpus callosum, Ventriculomegaly, Cryptorchidism	OMIM:619797
Ciliary Dyskinesia, Primary, 36, X-Linked	Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis,...	OMIM:300991
Desmosterolosis	Failure to thrive, Severe short stature, Absent septum pellucidum, Abnormal cortical gyration, Mi...	ORPHA:35107
Mirage Syndrome	Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Intracranial hemorrhage, Aspiration pneu...	OMIM:617053
Kleefstra Syndrome Due To A Point Mutation	Short stature, Microcephaly, Large for gestational age, Abnormal cerebral white matter morphology...	ORPHA:261652
Rahman Syndrome	Cryptorchidism, Thin corpus callosum, Ventriculomegaly	OMIM:617537
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Cryptorchidism, Dysphagia, Self-injurious behavior, Gastroesophagea...	ORPHA:494344
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Ventriculomegaly, Microcephaly	OMIM:611182
Edinburgh Malformation Syndrome	Low-set ears, Hydrocephalus, Respiratory insufficiency, Micrognathia	ORPHA:1895
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ...	OMIM:202400
Macrocephaly, Benign Familial	Ventriculomegaly	OMIM:153470
Joubert Syndrome 30	Molar tooth sign on MRI, Dandy-Walker malformation, Ventriculomegaly	OMIM:617622
Pontocerebellar Hypoplasia, Type 2B	Microcephaly, Simplified gyral pattern, Cerebral atrophy, Progressive microcephaly, Hypoplasia of...	OMIM:612389
Fg Syndrome Type 1	Short stature, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Hydro...	ORPHA:93932
Immunodeficiency 15A	Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut...	OMIM:618204
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Short stature, Postnatal growth retardation, Partial agenesis of the corpus callosum, Colpocephal...	OMIM:620113
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Microcephaly, Aggressive behavior, Perisylvian polymicrogyria, Growth delay, Hypoplasia of the co...	OMIM:619121
Craniopharyngioma	Enlarged pituitary gland, Cerebral calcification, Neoplasm of the anterior pituitary, Proportiona...	ORPHA:54595
Fanconi Anemia, Complementation Group B	Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Growth delay, Hypoplasia of the cor...	OMIM:300514
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Lateral ventricle...	OMIM:263520
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Reduced cerebral white matter volume, Microcephaly, Hypoplasia of the brainstem, Abnormal repetit...	OMIM:617807
Spondyloenchondrodysplasia	Delayed eruption of teeth, Abnormal lateral ventricle morphology, Skin rash, Decreased response t...	ORPHA:1855
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Micrognathia, Hydrocephalus, Double outlet...	OMIM:220210
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Res...	ORPHA:1237
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit...	ORPHA:572
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Failure to thrive, Abnormal cortical gyration, Microcephaly, Cryptorchidism, Hydrocephalus, Parti...	OMIM:210710
Pgm3-Cdg	Mild neurosensory hearing impairment, Membranoproliferative glomerulonephritis, Osteomyelitis, Ec...	ORPHA:443811
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali...	ORPHA:73263
Emanuel Syndrome	Anal atresia, Failure to thrive, Microcephaly, Cryptorchidism, Hydrocephalus, Cerebral atrophy, C...	ORPHA:96170
Spastic Paraplegia 50, Autosomal Recessive	High palate, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly	OMIM:612936
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Short stature, Microcephaly, Cryptorchidism, High palate, Hypoplasia of the corpus callosum, Decr...	OMIM:617452
Baraitser-Winter Syndrome 1	Failure to thrive, Short stature, Microcephaly, Postnatal growth retardation, Cryptorchidism, Lis...	OMIM:243310
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Encephalocele, Low-set, posteriorly rotated ears, Micrognathia, Hydrocepha...	ORPHA:1908
Granulomatosis With Polyangiitis	Sinusitis, Otitis media, Cough, Chronic otitis media, Chronic pulmonary obstruction, Vasculitis, ...	ORPHA:900
Sandestig-Stefanova Syndrome	Small for gestational age, High palate, Hypoplasia of the corpus callosum, Primary microcephaly, ...	OMIM:618804
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, T2 hypointense basal ganglia, Abnormal putame...	ORPHA:25
Luscan-Lumish Syndrome	Short stature, Aggressive behavior, Obesity, Polycystic ovaries, Polyphagia, Ventriculomegaly	OMIM:616831
B4Galt1-Cdg	Abnormal bleeding, Inflammatory abnormality of the skin, Hydrocephalus, Low-set ears, Dandy-Walke...	ORPHA:79332
Triploidy	Intestinal malrotation, Cryptorchidism, Hydrocephalus, Meningocele, Cleft palate, Aplasia/Hypopla...	ORPHA:3376
Choanal Atresia	Respiratory distress, Subglottic stenosis, Upper airway obstruction, Laryngomalacia, Tracheomalac...	ORPHA:137914
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Tetrasomy 15Q26	Microretrognathia, Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Cupped ear, ...	OMIM:614846
Mitochondrial Complex I Deficiency, Nuclear Type 6	Failure to thrive, Ventriculomegaly	OMIM:618228
Arachnoiditis	Hydrocephalus, Tinnitus, Hearing impairment	ORPHA:137817
Mitochondrial Complex I Deficiency, Nuclear Type 19	Secondary microcephaly, Ventriculomegaly	OMIM:618241
Thanatophoric Dysplasia, Type Ii	Neonatal death, Lethal short-limbed short stature, Ventriculomegaly, Temporal lobe dysplasia	OMIM:187601
Choreoacanthocytosis	Caudate atrophy, Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, ...	ORPHA:2388
Hoyeraal-Hreidarsson Syndrome	Cerebral calcification, Short stature, Microcephaly, Oral leukoplakia, Intrauterine growth retard...	ORPHA:3322
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Microcephaly, Diffuse white matter abnormalities, Growth delay, Hypoplasia of the corpus callosum...	ORPHA:466934
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus, Sensorineural hearing impairment	ORPHA:99947
Neonatal Lupus Erythematosus	Abnormal bleeding, Prolonged QT interval, Skin rash, Maculopapular exanthema, Heart block, Hydroc...	ORPHA:398124
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Conductive hearing impairment, Respiratory failure	ORPHA:1861
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Abnormal pinna morphology, Hydrocephalus, Small pituitary gland, Severe sensorineural hearing imp...	OMIM:614195
Fusariosis	Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Productive cough, Keratitis, ...	ORPHA:228119
Pyruvate Dehydrogenase Deficiency	Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Growth delay, High palate, Intrauterine ...	ORPHA:765
Metatropic Dysplasia	Hydrocephalus, Severe short stature, Cleft palate	ORPHA:2635
Hemophilia B	Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged bleeding after surgery, Join...	ORPHA:98879
Ciliary Dyskinesia, Primary, 3	Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis,...	OMIM:608644
Lipoyltransferase 1 Deficiency	Abnormal cerebral white matter morphology, Ventriculomegaly	OMIM:616299
Skraban-Deardorff Syndrome	Cleft palate, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:617616
Huntington Disease-Like 1	Restlessness, Abnormal basal ganglia morphology, Weight loss, Cerebral cortical atrophy, Ventricu...	ORPHA:157941
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Aggressive behavior, Microcephaly, Self-injurious behavior, Hypoplasia of the corpus callosum, Pr...	ORPHA:404473
Microsporidiosis	Pharyngitis, Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Abnormal vocal cord morp...	ORPHA:2552
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Hydrocephalus	ORPHA:2181
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Short stature, Microcephaly, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, High pala...	ORPHA:505237
Joubert Syndrome 9	Encephalocele, Molar tooth sign on MRI, Ventriculomegaly	OMIM:612285
Curry-Jones Syndrome	Agenesis of corpus callosum, Intestinal malrotation, Ventriculomegaly	ORPHA:1553
Ige Responsiveness, Atopic	Asthma, Eczema, Allergic rhinitis	OMIM:147050
Congenital Disorder Of Deglycosylation 2	Hamartoma of tongue, Partial agenesis of the corpus callosum, Macroglossia, High palate, Hypothal...	OMIM:619775
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pulsatile tinnitus, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitin...	ORPHA:276621
Alg8-Cdg	Abnormality of the gastrointestinal tract, Small for gestational age, Leukoencephalopathy, Macrog...	ORPHA:79325
Acquired Purpura Fulminans	Shock, Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal ...	ORPHA:49566
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Recurrent otitis media, Chronic sinusitis, Decreased nasal nitric oxide, Cough	OMIM:619607
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Kabuki Syndrome 1	Anal stenosis, Short stature, Intestinal malrotation, Microcephaly, Postnatal growth retardation,...	OMIM:147920
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Sinusitis, Pneumonia, Recurrent upper respiratory tract infections, Otitis m...	OMIM:613179
20P12.3 Microdeletion Syndrome	Short stature, Ventriculomegaly	ORPHA:261295
Myopathy, Centronuclear, X-Linked	Pyloric stenosis, Hydrocephalus, Cryptorchidism, High palate, Dandy-Walker malformation	OMIM:310400
Smith-Kingsmore Syndrome	Rhizomelia, Reduced cerebral white matter volume, Megalencephaly, Large for gestational age, Cryp...	OMIM:616638
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Aggressive behavior, Celiac disease, Attention deficit hyperactivity disorder, Hypoplasia of the ...	ORPHA:284169
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Enlarged pol...	ORPHA:91348
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding...	ORPHA:465
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Keppen-Lubinsky Syndrome	Micrognathia, Recurrent pneumonia, Upper airway obstruction, Respiratory insufficiency, Lateral v...	OMIM:614098
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Absent septum pellucidum, Microcephaly, Large for gestational age, Abnormal cerebral white matter...	OMIM:300868
Osteogenesis Imperfecta	Abnormality of dental color, Micrognathia, Osteoarthritis, Neonatal respiratory distress, Abnorma...	ORPHA:666
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Congenital pyloric atresia	OMIM:612138
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Abnormal dental enamel morphology, Hydrocephalus, Low-set ears, Malar flat...	ORPHA:2180
Ciliary Dyskinesia, Primary, 37	Hearing impairment, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinitis, Rhinorrhea	OMIM:617577
Recombinant Chromosome 8 Syndrome	Postnatal growth retardation, Cryptorchidism, Cerebral atrophy, Growth delay, Secondary microceph...	OMIM:179613
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Small for gestational age, Hydrocephalus, Disproportionate short-trunk short stature, Microcephaly	OMIM:613330
Intellectual Disability-Alacrima-Achalasia Syndrome	Achalasia, Dysphagia, Ventriculomegaly, Aggressive behavior	ORPHA:289483
Mosaic Variegated Aneuploidy Syndrome 1	Short stature, Small for gestational age, Hypodysplasia of the corpus callosum, Microcephaly, Pos...	OMIM:257300
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Small for gestational age, Microcephaly, Basal ganglia calcification, C...	OMIM:214150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Hydrocephalus, Progressive microcephaly, Hypoplasia of the brainstem, Lissencephaly...	OMIM:615249
Oxoglutaric Aciduria	Hydrocephalus, Short stature, Abnormal salivary gland morphology	ORPHA:31
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Short stature, Obesity, Ventriculomegaly	OMIM:615630
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Supernumerary nipple, Truncal obesity, Cerebral cortical atrophy, Ventriculomegaly, Abnormal corp...	ORPHA:3224
Hydrolethalus	Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, Anencephaly, Lary...	ORPHA:2189
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M...	ORPHA:1452
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Cerebral calcification, Microcephaly, Basal ganglia calcification, Hydrocephalus, ...	OMIM:617281
Congenital-Onset Steinert Myotonic Dystrophy	Hyperactivity, Obesity, Dysphagia, Gastroesophageal reflux, Decreased body weight, Ventriculomegaly	ORPHA:589821
Histidinuria-Renal Tubular Defect Syndrome	Cerebral cortical atrophy, Ventriculomegaly	ORPHA:2158
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Periventricular leukomalacia, Cerebral calcification, Short stature, Fail...	OMIM:620024
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, Postnatal growth retardation...	OMIM:241410
Dermatitis, Atopic	Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Atopic dermatitis, Conjunctivitis	OMIM:603165
Beck-Fahrner Syndrome	Microcephaly, Extra-axial cerebrospinal fluid accumulation, High palate, Attention deficit hypera...	OMIM:618798
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastrointestinal dysmotility, Simplified gyral pattern, Gastroesophageal reflux, Bifid uvula, Abs...	ORPHA:500150
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Microcephaly, Agitation, Bruxism, Recurrent hand flapping, Ventriculomegaly	OMIM:617903
Fanconi Anemia, Complementation Group R	Growth delay, Hydrocephalus, Anal atresia, Microcephaly	OMIM:617244
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the brainstem, ...	OMIM:620001
Walker-Warburg Syndrome	Dandy-Walker malformation, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Cr...	ORPHA:899
Lig4 Syndrome	Psoriasiform dermatitis, Cryptorchidism, Asthma, Telangiectasia, Chronic sinusitis	OMIM:606593
Pontocerebellar Hypoplasia, Type 2E	Short stature, Microcephaly, Cerebral atrophy, Progressive microcephaly, Secondary microcephaly, ...	OMIM:615851
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Slender build, Ventriculomegaly, Megalencephaly	OMIM:611087
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Mandibular prognathia, Cerebral hemorrhage, Subdural hemorrhage, Respirator...	OMIM:620278
Whim Syndrome	Pharyngitis, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recu...	ORPHA:51636
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Postnatal growth retardation, Dysplastic corpus ...	ORPHA:357058
Axial Mesodermal Dysplasia Spectrum	Short stature, Hydrocephalus, Anorectal anomaly, Tracheoesophageal fistula, Gastroesophageal refl...	ORPHA:1834
Developmental And Epileptic Encephalopathy 64	Microcephaly, Self-injurious behavior, Hypoplasia of the corpus callosum, Bruxism, Abnormal repet...	OMIM:618004
Chromosome 2P16.1-P15 Deletion Syndrome	Short stature, Microcephaly, Hypoplasia of the pons, Postnatal growth retardation, Cortical dyspl...	OMIM:612513
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Diffuse cerebral atrophy, Severe temper tantrums, Aggressive behavior, Cerebral atrophy, Leukoenc...	OMIM:617710
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Posteriorly rotated ears, Underdeveloped antitragus, Anteverted ears, Cong...	OMIM:181270
47,Xyy Syndrome	Cryptorchidism, Increased circulating gonadotropin level, Hydrocephalus, Asthma, Oligozoospermia,...	ORPHA:8
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Nasal polyposis, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Coiled sperm flagel...	OMIM:620197
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum, Cleft palate	OMIM:614402
Optic Pathway Glioma	Growth delay, Hydrocephalus	ORPHA:2086
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Cleft palate, Bile duct proliferation, Dandy-Walker malfo...	OMIM:607361
Chromosome 1P36 Deletion Syndrome, Distal	High palate, Gastroesophageal reflux, Pachygyria, Agenesis of corpus callosum, Self-mutilation, B...	OMIM:607872
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Microcephaly, Cryptorchidism, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Abn...	ORPHA:500159
Cutis Laxa, Autosomal Recessive, Type Iib	Microcephaly, Hydrocephalus, High palate, Gastroesophageal reflux, Intrauterine growth retardatio...	OMIM:612940
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In...	ORPHA:99147
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Diffuse white matter abnormalities, Agenesis of corpus callosum, High palate, Increased CSF prote...	OMIM:218000
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100006
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Hypoplasia of the brainstem, Bile duc...	OMIM:610688
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm...	ORPHA:91387
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Impulsivity, Microcephaly, Aggressive behavior, Protruding tongue, Tongue thrusting, Thin corpus ...	OMIM:619580
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Abnormal brainstem morphology, Abnormal pons morphology, Hypoplasia of the corpus callosum, Polym...	ORPHA:370997
48,Xxyy Syndrome	Cryptorchidism, Obesity, Cleft palate, Azoospermia, Gastroesophageal reflux, Attention deficit hy...	ORPHA:10
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Sensorineural hearing impairment, Intracranial hemorrhage, Respiratory f...	ORPHA:3226
Juvenile Temporal Arteritis	Vasculitis, Conjunctivitis, Allergic rhinitis, Cerebral ischemia	ORPHA:26137
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Short stature, Hydrocephalus, Cleft palate, Attention deficit hyperactivity disorder, Agenesis of...	ORPHA:459061
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arteriovenous malformation, Arrhyth...	ORPHA:60040
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media	OMIM:601457
Aase-Smith Syndrome I	Hydrocephalus, Abnormal pinna morphology, Dandy-Walker malformation	OMIM:147800
Linear Verrucous Nevus Syndrome	Ventriculomegaly, Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2611
Cerebrofacioarticular Syndrome	Anal stenosis, Short stature, Microcephaly, Dysplastic corpus callosum, Anteriorly placed anus, S...	ORPHA:314679
Sanjad-Sakati Syndrome	Hypoparathyroidism, Intestinal obstruction, Short stature, Microcephaly, Postnatal growth retarda...	ORPHA:2323
Lowry-Maclean Syndrome	Microcephaly, Bilateral cryptorchidism, High, narrow palate, Hydrocephalus, Pyloric stenosis, Mid...	ORPHA:2409
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Colpocephaly,...	OMIM:617260
16P13.11 Microdeletion Syndrome	Short stature, Microcephaly, Cryptorchidism, Cleft palate, Self-injurious behavior, Gastroesophag...	ORPHA:261236
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Failure to thrive, Increased CSF alanine concentration, Anorexia, ...	ORPHA:3008
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Kleefstra Syndrome Due To 9Q34 Microdeletion	Failure to thrive, Absent septum pellucidum, Microcephaly, Protruding tongue, Cryptorchidism, Obe...	ORPHA:96147
Mucopolysaccharidosis Type 6	Chronic otitis media, Sinusitis, Recurrent upper respiratory tract infections, Hearing impairment	ORPHA:583
Capillary Malformation-Arteriovenous Malformation	Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati...	ORPHA:137667
S-Adenosylhomocysteine Hydrolase Deficiency	Microcephaly, Hypoplasia of the pons, Growth delay, Hypoplasia of the corpus callosum, Hepatocell...	ORPHA:88618
Combined Oxidative Phosphorylation Deficiency 14	Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Increased CSF lactate, Growth delay, At...	OMIM:614946
Mulibrey Nanism	Short stature, Growth delay, Intrauterine growth retardation, Microglossia, Ventriculomegaly	OMIM:253250
Acromelic Frontonasal Dysplasia	Encephalocele, Anterior pituitary hypoplasia, Cryptorchidism, Meningocele, Choroid plexus cyst, H...	ORPHA:1827
3C Syndrome	Short stature, Intestinal malrotation, Postnatal growth retardation, High, narrow palate, Hydroce...	ORPHA:7
Temtamy Syndrome	Self-mutilation, Agenesis of corpus callosum, Thick corpus callosum, Ventriculomegaly	OMIM:218340
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Cerebral white matter atrophy, Short stature, Abnormal cortical gyration, Microcephaly, Cerebral ...	ORPHA:79351
Carboxypeptidase N Deficiency	Allergic rhinitis	OMIM:212070
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Brainstem dysplasia, Hydrocephalus, Hypoplasia o...	OMIM:608091
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v...	ORPHA:2184
Snijders Blok-Campeau Syndrome	High palate, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Thin corpu...	OMIM:618205
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Abnormal basal ganglia MRI signal intensity, Microcephaly, Hypoplasia of the corpus callosum, Fai...	ORPHA:431361
Warburg Micro Syndrome 3	Decreased testicular size, Microcephaly, Postnatal growth retardation, Narrow palate, Secondary m...	OMIM:614222
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Periventricular leukomalacia, Short stature, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:618547
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Whipple Disease	Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Myocarditis, Hydrocep...	ORPHA:3452
Microcephaly 30, Primary, Autosomal Recessive	Cleft soft palate, Primary microcephaly, Intrauterine growth retardation, Cerebral cortical atrop...	OMIM:620183
Acys Amyloidosis	Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100008
Brain Malformations With Or Without Urinary Tract Defects	Failure to thrive, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:613735
Pontocerebellar Hypoplasia, Type 7	Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Cerebral atrophy, Progressive microcephaly...	OMIM:614969
Smith-Magenis Syndrome	Short stature, Failure to thrive in infancy, Microcephaly, Obesity, Cleft palate, Aplasia/Hypopla...	ORPHA:819
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Growth delay, Short stature, Ventriculomegaly	ORPHA:363429
Proximal 16P11.2 Microdeletion Syndrome	Pyloric stenosis, Obesity, Cleft palate, Gastroesophageal reflux, Attention deficit hyperactivity...	ORPHA:261197
Congenital Disorder Of Glycosylation, Type Iim	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, High palate, Gastroesophageal reflu...	OMIM:300896
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Neuronal loss in basal ganglia, Cerebral atrophy, Increased CSF lactate, High palate, Basal gangl...	OMIM:604377
Pseudo-Torch Syndrome 1	Failure to thrive, Cerebral calcification, Microcephaly, Lissencephaly, High palate, Pachygyria, ...	OMIM:251290
Amish Lethal Microcephaly	Cleft soft palate, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum, Ventri...	ORPHA:99742
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Self-injurious behavior, Ventriculomegaly	OMIM:618707
Griscelli Syndrome	Encephalocele, Pyloric stenosis, Hydrocephalus, Short stature	ORPHA:381
Toriello-Carey Syndrome	Short stature, Aganglionic megacolon, Microcephaly, Postnatal growth retardation, Cryptorchidism,...	ORPHA:3338
Multiple Sulfatase Deficiency	Short stature, Hydrocephalus, Cerebral atrophy, Abnormal periventricular white matter morphology,...	OMIM:272200
Muenke Syndrome	Malar flattening, Hydrocephalus, Sensorineural hearing impairment	ORPHA:53271
Maternal Uniparental Disomy Of Chromosome 6	Cleft palate, Hydrocele testis, Intrauterine growth retardation, Congenital adrenal hyperplasia, ...	ORPHA:96181
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Microcephaly, Hydrocephalus, Cerebral atrophy, Growth delay, Decreased body weight...	OMIM:614886
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Reduced forced expiratory vo...	OMIM:613686
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Aggressive behavior, Cryptorchidism, Cerebral atrophy, Growth delay, Attention deficit hyperactiv...	OMIM:618659
Femoral-Facial Syndrome	Short stature, Cryptorchidism, Cleft palate, Aplasia/Hypoplasia of the corpus callosum, Ventricul...	ORPHA:1988
Intellectual Developmental Disorder, Autosomal Dominant 64	Microcephaly, Growth delay, High palate, Attention deficit hyperactivity disorder, Ventriculomegaly	OMIM:619188
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation	OMIM:300863
Rabin-Pappas Syndrome	Mandibular prognathia, Hypoventilation, Retinal telangiectasia, Micrognathia, Conductive hearing ...	OMIM:620155
Marden-Walker Syndrome	Microcephaly, Postnatal growth retardation, High, narrow palate, Pyloric stenosis, Cryptorchidism...	OMIM:248700
Desmosterolosis	Rhizomelia, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Cleft palate, A...	OMIM:602398
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Abnormal gastric mucosa mor...	ORPHA:2494
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Molar tooth sign on MRI, Polym...	ORPHA:220497
Ventriculomegaly With Cystic Kidney Disease	Vascular dilatation, Hydrocephalus, Ventriculomegaly	OMIM:219730
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Colpocephaly, High palate, Hypoplasia of the corpus callosum, Dysphagia, Ventricu...	ORPHA:261250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Hydrocephalus, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria,...	OMIM:616538
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Megalencephaly, Lipomyelome...	OMIM:601707
Intellectual Developmental Disorder, Autosomal Dominant 65	Aggressive behavior, Noncommunicating hydrocephalus, Attention deficit hyperactivity disorder, Co...	OMIM:619320
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short stature, Small for gestational age, Postnatal growth retardation, Pyloric stenosis, Cryptor...	ORPHA:96184
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Small for gestational age, Microcephaly, Cerebral atrophy, Growth delay, Abnormal cerebral white ...	OMIM:615471
Optic Atrophy 11	Hyperactivity, Short stature, Microcephaly, Leukoencephalopathy, Stereotypical body rocking, Atte...	OMIM:617302
Chronic Granulomatous Disease	Sinusitis, Eczema, Chronic pulmonary obstruction, Otitis media, Inflammatory abnormality of the eye	ORPHA:379
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abnormal periventricular wh...	ORPHA:468631
Trisomy 1Q	Cryptorchidism, Hydrocephalus, Cleft palate, Anal atresia, Agenesis of corpus callosum, Ventricul...	ORPHA:261344
Linear Skin Defects With Multiple Congenital Anomalies 1	Short stature, Absent septum pellucidum, Microcephaly, Hydrocephalus, Cleft palate, Anteriorly pl...	OMIM:309801
Hereditary Pheochromocytoma-Paraganglioma	Pulsatile tinnitus, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitin...	ORPHA:29072
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased testicular size, Failure to thrive, Short stature, Decreased response to growth hormone...	ORPHA:98793
Muscular Dystrophy, Congenital, With Or Without Seizures	Ventriculomegaly, Dysphagia	OMIM:620166
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Hydrocephalus, Inappropriate laughter, Hyperintensity of cerebral white m...	OMIM:618476
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Microcephaly, Cryptorchidism, Growth delay, Intrauterine growth retardation, Ventriculomegaly	ORPHA:2083
Gorlin Syndrome	Mandibular prognathia, Cryptorchidism, Hydrocephalus, Carious teeth	ORPHA:377
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Ventriculomegaly, Self-biting	OMIM:618314
Amoebiasis Due To Free-Living Amoebae	Increased CSF protein concentration, Sinusitis, Pneumonia, Abnormal cerebrospinal fluid morpholog...	ORPHA:68
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cryptorchidism, Dysplastic corpus callosum, Small for gestational age, Intrauterine growth retard...	OMIM:620135
Fg Syndrome 3	Pyloric stenosis, Hyperactivity, Agenesis of corpus callosum, Cryptorchidism	OMIM:300406
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm...	ORPHA:494424
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Chronic otitis media, Chronic sinusitis, Decreased nasal nitric oxide	OMIM:619608
Kleefstra Syndrome	Short stature, Supernumerary nipple, Microcephaly, Aggressive behavior, Pyloric stenosis, Self-mu...	ORPHA:261494
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased testicular size, Failure to thrive, Short stature, Decreased response to growth hormone...	ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased testicular size, Short stature, Decreased response to growth hormone stimulation test, ...	ORPHA:98754
Igg4-Related Pachymeningitis	Increased CSF protein concentration, Sinusitis, Abnormal cerebrospinal fluid morphology, Dyspnea,...	ORPHA:449427
Cadds	Abnormal cerebral white matter morphology, Ventriculomegaly, Intrauterine growth retardation	ORPHA:369942
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Restlessness, Cerebral white matter atrophy, Ventriculomegaly, Myelopathy, Leukoencephalopathy, I...	OMIM:617186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Dandy-Walker malformation, Agyria, Type II lissencephaly, Hydrocephalus, Partial a...	OMIM:614643
Developmental And Epileptic Encephalopathy 80	Failure to thrive, Protruding tongue, Growth delay, Abnormal cerebral white matter morphology, Hi...	OMIM:618580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Ventriculomegaly, Microcephaly, Hydrocephalus, Cleft palate, Macroglossia, Hypopla...	OMIM:613150
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased testicular size, Failure to thrive, Short stature, Decreased response to growth hormone...	ORPHA:177901
Familial Multiple Nevi Flammei	Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar...	ORPHA:624
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Intrauterine growth retardation, Ventriculomegaly, Increased CSF lactate	OMIM:619051
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Arthritis, Panniculitis, Conjunctivitis	OMIM:617591
Crouzon Syndrome	Mandibular prognathia, Keratitis, Hypoplasia of the maxilla, Hydrocephalus, Conjunctivitis, Atres...	OMIM:123500
Galloway-Mowat Syndrome 3	Failure to thrive, Short stature, Microcephaly, Hiatus hernia, Simplified gyral pattern, Cerebral...	OMIM:617729
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decreased body weight, Mi...	OMIM:614833
Isolated Sedoheptulokinase Deficiency	Short stature, Severe postnatal growth retardation, Subcortical cerebral atrophy, Steatorrhea, Ve...	ORPHA:440713
19P13.12 Microdeletion Syndrome	Hyperactivity, Microcephaly, Cryptorchidism, Obesity, Cleft palate, Self-injurious behavior, Hypo...	ORPHA:254346
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Neonatal death, Anal atresia	OMIM:314390
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Micrognathia, Recurrent pneumonia, Bronchiectas...	OMIM:618282
Thanatophoric Dysplasia Type 1	Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Ventriculomegaly, Hearing imp...	ORPHA:1860
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Tinnitus, Epistaxis	ORPHA:403
Good Syndrome	Sinusitis, Recurrent skin infections, Dyspnea, Bronchiectasis, Cough	ORPHA:169105
Immunodeficiency 13	Nasal polyposis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Bronchiectasi...	OMIM:615518
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the brainstem, Lissenceph...	OMIM:617822
Lissencephaly Due To Lis1 Mutation	Thick cerebral cortex, Ventriculomegaly, Progressive microcephaly, Anterior predominant thick cor...	ORPHA:95232
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Aganglionic megacolon, Microcephaly, Cleft palate, Growth delay, Anal atresia, Ven...	OMIM:614749
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Hearing impairment	OMIM:601499
Wieacker-Wolff Syndrome, Female-Restricted	Short stature, Microcephaly, Cleft palate, Dysphagia, Ventriculomegaly	OMIM:301041
Hurler-Scheie Syndrome	Cardiomyopathy, Sensorineural hearing impairment, Rhinitis	ORPHA:93476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Dandy-Walker malformation, Agyria, Type II lissencephaly, Microcephaly, ...	OMIM:236670
Pontocerebellar Hypoplasia, Type 10	Reduced cerebral white matter volume, Microcephaly, Cryptorchidism, Simplified gyral pattern, Gro...	OMIM:615803
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Dilation of Virchow-Robin spaces, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydroce...	OMIM:619951
Coccidioidomycosis	Respiratory distress, Morbilliform rash, Cough, Vasculitis, Vasospasm, Abnormal sperm morphology,...	ORPHA:228123
Kyphoscoliotic Ehlers-Danlos Syndrome	Cerebral hemorrhage, Micrognathia, Hearing impairment, Sensorineural hearing impairment, Subdural...	ORPHA:536545
Gracile Bone Dysplasia	Failure to thrive, Hydrocephalus, Ankyloglossia, Short stature	OMIM:602361
Combined Oxidative Phosphorylation Deficiency 39	Microcephaly, Simplified gyral pattern, Cerebral atrophy, Increased CSF lactate, Intrauterine gro...	OMIM:618397
Eosinophilopenia	Allergic rhinitis	OMIM:131430
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic oral candidiasis, Chr...	ORPHA:83471
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Intestinal malrotation, Ventriculomegaly	OMIM:617866
Oculocerebrocutaneous Syndrome	Dandy-Walker malformation, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the corpus callos...	ORPHA:1647
Mucolipidosis Iv	Dysplastic corpus callosum, Achlorhydria, Cerebral dysmyelination, Microcephaly	OMIM:252650
Propionic Acidemia	Apnea, Eczema, Cerebellar hemorrhage, Tachypnea, Cardiomyopathy, Pancreatitis	OMIM:606054
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Eczema, Hypoplasia of the maxilla, Keratoconjunctivitis sicca, Cough, Inflammatory abn...	ORPHA:238468
Microcephalic Primordial Dwarfism, Montreal Type	Cryptorchidism, Severe short stature, Congenital pyloric atresia, Microcephaly	ORPHA:2617
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal dental enamel morphology, Cryptorchidism, Hydrocephalus, Hypoplasia of the zygomatic bon...	ORPHA:1812
Congenital Disorder Of Glycosylation, Type If	Cerebral atrophy, Failure to thrive, Ventriculomegaly, Microcephaly	OMIM:609180
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Hypertension, Tinnitus, Epistaxis	ORPHA:404
Distal Triplication 15Q	Micrognathia, Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Cupped ear, Senso...	ORPHA:314588
Gillespie Syndrome	Thin corpus callosum, Ventriculomegaly	OMIM:206700
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Microcephaly, Hydrocephalus, Cleft palate, Stillbirth, A...	OMIM:243605
Trisomy 18P	Short stature, Microcephaly, Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Att...	ORPHA:1715
Chromosome 6Pter-P24 Deletion Syndrome	Posteriorly rotated ears, Patent ductus arteriosus, Hydrocephalus, Sensorineural hearing impairme...	OMIM:612582
Cerebellofaciodental Syndrome	Short stature, Aggressive behavior, Hypoplasia of the pons, Microcephaly, Cryptorchidism, Hypopla...	OMIM:616202
Isotretinoin-Like Syndrome	Micrognathia, Patent ductus arteriosus, Hydrocephalus, Abnormal aortic arch morphology, Conotrunc...	ORPHA:2306
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Eczema, Asthma, Hydrocephalus, Patent ductus arteriosus, Bruising susceptibility	OMIM:618162
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Short stature, Small for gestational age, Microcephaly, Cryptorchidism, Megarectum, Hypoplasia of...	OMIM:301056
1Q21.1 Microdeletion Syndrome	Short stature, Microcephaly, Cryptorchidism, Hydrocephalus, Ankyloglossia, High palate, Attention...	ORPHA:250989
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Cerebral atrophy, Dysphagia, Failure to thrive, Ventriculomegaly	OMIM:230600
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia	ORPHA:3016
Apert Syndrome	Absent septum pellucidum, Esophageal atresia, Hydrocephalus, Narrow palate, Cleft palate, Ovarian...	ORPHA:87
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Molar tooth sign on MRI, Polym...	ORPHA:220493
Ogden Syndrome	Postnatal growth retardation, High, narrow palate, Cryptorchidism, Cerebral atrophy, Ventriculome...	ORPHA:276432
Fumarase Deficiency	Necrotizing enterocolitis, Failure to thrive, Microcephaly, Mitochondrial swelling, Choroid plexu...	OMIM:606812
H Syndrome	Psoriasiform dermatitis, Recurrent pharyngitis, Hydrocephalus, Abnormal cardiovascular system phy...	ORPHA:168569
Leukodystrophy, Hypomyelinating, 12	Secondary microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly	OMIM:616683
Icf Syndrome	Communicating hydrocephalus, Short stature, Malabsorption, Protruding tongue, Macroglossia	ORPHA:2268
Spastic Paraplegia 51, Autosomal Recessive	Short stature, Microcephaly, Overweight, Cerebral cortical atrophy, Ventriculomegaly	OMIM:613744
Even-Plus Syndrome	Severe short stature, Dysplastic corpus callosum, High palate, Agenesis of corpus callosum, Anal ...	OMIM:616854
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Low-set ears, Micrognathia	ORPHA:163966
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hearing impairment, Congestive heart failure, Asthma, Hydrocephalus, R...	OMIM:309900
Joubert Syndrome With Oculorenal Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, M...	ORPHA:2318
Osteopetrosis, Autosomal Recessive 1	Osteomyelitis, Carious teeth, Hydrocephalus, Calvarial osteosclerosis, Hearing impairment	OMIM:259700
Alpha-1-Antitrypsin Deficiency	Gastric varix, Hepatocellular carcinoma	OMIM:613490
Crane-Heise Syndrome	Cryptorchidism, Cleft palate, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth reta...	ORPHA:1512
Seckel Syndrome 9	Short stature, Small for gestational age, Microcephaly, Simplified gyral pattern, Intrauterine gr...	OMIM:616777
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Villous atrophy, Ileus, Ventriculomegaly	OMIM:304790
Cole-Carpenter Syndrome 2	Postnatal growth retardation, High palate, Hydrocephalus, Short stature	OMIM:616294
Superficial Siderosis	Abnormal bleeding, Enlarged sylvian cistern, Increased CSF protein concentration, Subarachnoid he...	ORPHA:247245
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Extra-axial cerebrospinal fluid accumulation, High palate, Attention deficit hyperactivity disord...	OMIM:619383
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Asthma, Recurrent pneumoni...	OMIM:102700
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Hyperactivity, Short stature, Small for gestational age, Microcephaly, Aggressive ...	OMIM:619148
Koolen-De Vries Syndrome	Short stature, Microcephaly, High, narrow palate, Pyloric stenosis, Cryptorchidism, Cleft palate,...	ORPHA:96169
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Neopl...	ORPHA:512
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Tinnitus	ORPHA:251274
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Hydrocephalus, Wei...	OMIM:619377
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus, Dentinogenesis imperfecta, Micrognathia	OMIM:112240
Basal Cell Nevus Syndrome 2	Hydrocephalus, Calcification of falx cerebri	OMIM:620343
Genitopalatocardiac Syndrome	Microcephaly, Cryptorchidism, Hydrocephalus, Cleft palate, Intrauterine growth retardation	ORPHA:2075
Tetrasomy 5P	Pericallosal lipoma, Postnatal growth retardation, Hydrocephalus, High palate, Failure to thrive	ORPHA:3309
Thanatophoric Dysplasia, Type I	Hydrocephalus, Disproportionate short-limb short stature, Temporal lobe dysplasia, Neonatal death...	OMIM:187600
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Rhizomelia, Megalencephaly, Hydrocephalus, Disproportionate short stature, ...	OMIM:616482
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Short stature, Anterior pituitary hypoplasia, Small for gestational age, Microceph...	ORPHA:464306
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:618381
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s...	OMIM:171300
Combined D-2- And L-2-Hydroxyglutaric Aciduria	Ventriculomegaly, Microcephaly	OMIM:615182
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Abnormal periventricular ...	ORPHA:395
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Hyperactivity, Microcephaly, Cerebral cortical atrophy, Gastroesophageal reflux, Agenesis of corp...	OMIM:619720
Koolen-De Vries Syndrome	Hyperactivity, Short stature, Small for gestational age, Impulsivity, Microcephaly, Pyloric steno...	OMIM:610443
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Failure to thrive, Hydrocephalus, Porencephalic cyst,...	ORPHA:974
Hellp Syndrome	Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, Internal hemorrhage	ORPHA:244242
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Respiratory in...	ORPHA:163979
Lenz-Majewski Hyperostotic Dwarfism	Failure to thrive, Short stature, Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus ...	OMIM:151050
3-Methylglutaconic Aciduria, Type Viii	Cerebral atrophy, Increased CSF lactate, Growth delay, Secondary microcephaly, Hypoplasia of the ...	OMIM:617248
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Cleft palate, Furrowed tongue, High palate, Gastroesophageal refl...	OMIM:616449
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent skin infections, Chronic pulmonary obstruction, Recurrent pneumonia...	OMIM:616576
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Gastroesophageal reflux, Hepatic hemangioma, Dysphagia, Ventriculom...	ORPHA:73230
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Velopharyngeal insufficiency, Anal atresia, Ventriculomegaly	ORPHA:363444
Peho Syndrome	Microcephaly, Hydrocephalus, Porencephalic cyst, Atrophy/Degeneration affecting the brainstem, Ce...	ORPHA:2836
Glycine Encephalopathy With Normal Serum Glycine	Dysphagia, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly	OMIM:617301
Dpm1-Cdg	Failure to thrive, High, narrow palate, Cerebral atrophy, Pontocerebellar atrophy, Secondary micr...	ORPHA:79322
Familial Multiple Lipomatosis	Cerebral calcification, Functional intestinal obstruction, Hypoplasia of the corpus callosum, Ven...	ORPHA:199276
Keutel Syndrome	Sinusitis, Cartilaginous ossification of larynx, Calcification of the auricular cartilage, Hearin...	OMIM:245150
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Short stature, Intestinal malrotation, Microcephaly, Velopharyngeal insufficiency, Submucous clef...	OMIM:614701
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Abnormal cortical gyration, Cessation of head growth, Progressive microcephaly, High palate, Hypo...	OMIM:617527
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ...	ORPHA:324636
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Alobar holoprosencephaly, Microcephaly, Submucous cleft hard palate, Cleft...	OMIM:301043
Tatton-Brown-Rahman Syndrome	Proportionate short stature, Aggressive behavior, Cryptorchidism, Obesity, Ventriculomegaly	ORPHA:404443
Khan-Khan-Katsanis Syndrome	Short stature, Microcephaly, Colpocephaly, Dysphagia, Intrauterine growth retardation, Failure to...	OMIM:618460
Czeizel-Losonci Syndrome	Low-set, posteriorly rotated ears, Spina bifida, Micrognathia, Hydrocephalus, Myelomeningocele, H...	ORPHA:2437
Medulloblastoma	Cerebellar hemorrhage, Hydrocephalus, Bilateral sensorineural hearing impairment	ORPHA:616
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Cleft palate, Ectopic anus, High p...	ORPHA:2059
Trisomy 17P	Micrognathia, Patent ductus arteriosus, Hydrocephalus, Low-set ears, Malar flattening, Aortic val...	ORPHA:261290
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the earlobes, Hyperten...	ORPHA:1555
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Anal atresia	ORPHA:3301
Carey-Fineman-Ziter Syndrome	Cerebral calcification, Short stature, Aplasia/Hypoplasia of the tongue, Microcephaly, Cleft pala...	ORPHA:1358
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointersti...	ORPHA:340
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Obesity, Secondary microcephaly, Periventricular white matter hyperin...	OMIM:619737
Neu-Laxova Syndrome 2	Spina bifida, Microcephaly, Cleft palate, Lissencephaly, High palate, Intrauterine growth retarda...	OMIM:616038
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis, Meningocele, Short stature, Ventriculomegaly	ORPHA:2031
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Hypoplasia of the corpus c...	OMIM:613001
Magel2-Related Prader-Willi-Like Syndrome	Short stature, Impulsivity, Cryptorchidism, Xerostomia, Increased body weight, Abdominal obesity,...	ORPHA:398069
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Hypoplasia of the brainstem, Hypop...	OMIM:616546
Basilicata-Akhtar Syndrome	Gastroesophageal reflux, Ventriculomegaly	OMIM:301032
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI, Hamartoma of tongue, Ventriculomegaly	OMIM:617563
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Small for gestational age, Microcephaly, Cryptorchidism, Abnormal brainstem morphology, Birth len...	ORPHA:464311
Galloway-Mowat Syndrome 1	Dandy-Walker malformation, Short stature, Small for gestational age, Microcephaly, Hiatus hernia,...	OMIM:251300
Cystic Fibrosis	Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced vital capacity, A...	OMIM:219700
Plaa-Associated Neurodevelopmental Disorder	Cerebral white matter atrophy, Abnormal cortical gyration, Microcephaly, Leukoencephalopathy, Hig...	ORPHA:521426
Sim1-Related Prader-Willi-Like Syndrome	Cryptorchidism, Xerostomia, Obesity, Abdominal obesity, Small pituitary gland, Abnormal temper ta...	ORPHA:398079
Joubert Syndrome	Encephalocele, Apnea, Episodic tachypnea, Hydrocephalus, Low-set ears, Abnormal pattern of respir...	ORPHA:475
Bronchogenic Cyst	Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia	ORPHA:2357
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary...	ORPHA:369929
Carey-Fineman-Ziter Syndrome 1	Microcephaly, Cryptorchidism, Cleft palate, Growth delay, Glossoptosis, Hypoplasia of the brainst...	OMIM:254940
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Small for gestational age, Microcephaly, Cleft palate, Intrauterine growth retardation, Ventricul...	OMIM:616897
Sotos Syndrome	Aggressive behavior, High, narrow palate, Partial agenesis of the corpus callosum, Cryptorchidism...	OMIM:117550
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Cerebellar hemorrhage, Tubulointerstitial nephritis, Cardiomyopathy, Pancre...	OMIM:251000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Absent septum pellucidum, Type II lissencep...	OMIM:615287
Pseudotrisomy 13 Syndrome	Encephalocele, Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Polymicrogyria, Ag...	OMIM:264480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Hypoplasia of the brains...	OMIM:253800
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Failure to thrive, Aggressive behavior, High, narrow palate, Tongue thrusting, Obesity, Macroglos...	ORPHA:369950
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Supernumerary nipple, Microcephaly, Cryptorchidism, Cleft palate, High palate, Hol...	OMIM:612530
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Jejunal atresia, Absent septum pellucidum, Ileal atresia, Dysplastic corpus callosu...	OMIM:618820
Paroxysmal Hemicrania	Hypertension, Rhinitis, Rhinorrhea	ORPHA:157835
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Sinusitis, Skin rash, Pneumonia, Eczema, Decreased response to growth ...	ORPHA:811
Autosomal Dominant Severe Congenital Neutropenia	Pharyngitis, Recurrent skin infections, Pneumonia, Rhinitis, Periodontitis, Recurrent aphthous st...	ORPHA:486
Opitz-Kaveggia Syndrome	Anal stenosis, Short stature, Intestinal malrotation, Pyloric stenosis, Hydrocephalus, Partial ag...	OMIM:305450
Microgastria-Limb Reduction Defect Syndrome	Failure to thrive, Absent septum pellucidum, Abnormal cortical gyration, Hiatus hernia, Intestina...	ORPHA:2538
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Sinusitis, Micrognathia, Malar prominence, Recurrent pneumonia, Bron...	OMIM:251260
Congenital Sialidosis Type 2	Abnormal EKG, Hydrocephalus, Telangiectasia, Low-set ears, Cherry red spot of the macula, Petechi...	ORPHA:93400
Mycophenolate Mofetil Embryopathy	Micrognathia, Hydrocephalus, Coarctation of aorta, Anotia, Microtia, Atresia of the external audi...	ORPHA:268249
Thakker-Donnai Syndrome	Communicating hydrocephalus, Tracheoesophageal fistula, Rectovaginal fistula, Intrauterine growth...	ORPHA:1780
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Micrognathia, Hydrocephalus, Protruding ear, Mitral regurgitation, Abnormality of the ...	ORPHA:363700
15Q Overgrowth Syndrome	Mandibular prognathia, Microretrognathia, Low-set, posteriorly rotated ears, Tricuspid regurgitat...	ORPHA:314585
Lateral Meningocele Syndrome	Posteriorly rotated ears, Micrognathia, Abnormality of the middle ear ossicles, Cryptorchidism, P...	OMIM:130720
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Cryptorchidism, Abnormal repetitive mannerisms, Self-mutilation, Ventriculomegaly	OMIM:300486
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave, Tinnitus	ORPHA:231625
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Attention deficit hyperactivity disorder, Short stature, Absent septum pellucidum, Ventriculomegaly	OMIM:618870
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, Respiratory...	ORPHA:1865
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Microcephaly, Cerebral atrophy, Cleft palate, High palate, Dandy-Walker malformation, Ventriculom...	OMIM:220500
Lhermitte-Duclos Disease	Macroglossia, Hydrocephalus, Polymicrogyria, Ovarian neoplasm	ORPHA:65285
Alobar Holoprosencephaly	Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus...	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus...	ORPHA:93924
Semilobar Holoprosencephaly	Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus...	ORPHA:220386
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal...	OMIM:175780
Marshall-Smith Syndrome	Failure to thrive, Ventriculomegaly, Protruding tongue	ORPHA:561
Nelson Syndrome	Testicular neoplasm, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormone excess, In...	ORPHA:199244
Oculocerebral Hypopigmentation Syndrome, Preus Type	High palate, Hydrocephalus, Abnormal brainstem morphology, Short stature	ORPHA:2720
Cerebrooculonasal Syndrome	Encephalocele, Postnatal growth retardation, Hydrocephalus, Narrow palate, Cleft palate, High pal...	OMIM:605627
Trichorhinophalangeal Syndrome Type 2	Growth delay, Short stature, Ventriculomegaly, Microcephaly	ORPHA:502
Achondroplasia	Hypoxemia, Restrictive ventilatory defect, Hydrocephalus, Hearing impairment	ORPHA:15
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Hydrocephalus, Cleft palate, Anteriorly placed anus, Abnormal rectum morph...	OMIM:239300
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus ca...	OMIM:619103
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Cleft palate, N...	ORPHA:2839
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, High, narrow palate, Hydroc...	ORPHA:228308
Marden-Walker Syndrome	Severe short stature, Absent septum pellucidum, Microcephaly, Pyloric stenosis, Hydrocephalus, Su...	ORPHA:2461
Linear Nevus Sebaceus Syndrome	Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Growth del...	ORPHA:2612
Tempi Syndrome	Hypoxemia, Transudative pleural effusion, Intracranial hemorrhage, Telangiectasia	ORPHA:284227
Fanconi Anemia, Complementation Group D2	Short stature, Small for gestational age, Microcephaly, Esophageal atresia, Hydrocephalus, Crypto...	OMIM:227646
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Macroglossia, Abnormal cerebral white matter morphology, High palate, ...	OMIM:614501
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Failure to thrive, Increased CSF lactate, Microcephaly	OMIM:604273
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Failure to thrive, Microcephaly, Repetitive compulsive behavior, Cleft palate, Pineal cyst, Stere...	ORPHA:513456
Holoprosencephaly 9	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:610829
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Severe short stature, Hydrocephalus, Cleft palate, Neonatal short-limb short stature	OMIM:224400
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Failure to thrive, Abnormal midbra...	ORPHA:444072
Bilateral Polymicrogyria	4-layered lissencephaly, Aplasia/Hypoplasia of the cerebral white matter, Perisylvian polymicrogy...	ORPHA:268940
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Intracerebral periventricular calcifications, Short stature, Microce...	ORPHA:168577
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Septo-optic dysplasia, Short stature, Cryptorchidism, Delayed pubert...	ORPHA:95496
Apert Syndrome	Absent septum pellucidum, Megalencephaly, Esophageal atresia, Hydrocephalus, Pyloric stenosis, Cr...	OMIM:101200
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Intestinal malrotation, Microcephaly, Cryptorchidism, Hydrocephalus, Cleft palate,...	ORPHA:2166
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cleft hard palate, Large basal ganglia, Abnormal repetitive mannerisms, Agenesis of corpus callos...	ORPHA:261537
Hurler Syndrome	Angina pectoris, Hydrocephalus, Cardiomyopathy, Hypertension, Rhinitis, Hearing impairment	ORPHA:93473
Prader-Willi Syndrome	Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Perisylvian...	ORPHA:739
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros...	ORPHA:2356
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrh...	ORPHA:79282
Malan Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:614753
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Tricuspid regurgitation, Pneumonia, Carious teeth, Hydrocephalus, Recu...	OMIM:253200
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Arteriosclerosis, Hydrocephalus, Skin rash, Hearing impairment	ORPHA:220295
Shashi-Pena Syndrome	Mild fetal ventriculomegaly, Reduced cerebral white matter volume, Ventriculomegaly, Intrauterine...	OMIM:617190
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Laryngeal web, ...	ORPHA:137675
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus, Retrognathia, Hypertension, Aortic root aneurysm, K...	OMIM:616914
Sturge-Weber Syndrome	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph...	ORPHA:3205
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Natal tooth, Posteriorly rotated ears, Hydrocephalus, Hypertension, Atresia...	OMIM:123790
Mend Syndrome	Hyperactivity, Short stature, Aggressive behavior, Cryptorchidism, Hydrocephalus, Cleft palate, H...	ORPHA:401973
Iniencephaly	Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys...	ORPHA:63259
Monosomy 18Q	Mandibular prognathia, Left-to-right shunt, Bilateral cryptorchidism, Left aortic arch with right...	ORPHA:1600
Proteus-Like Syndrome	Communicating hydrocephalus, Venous insufficiency, Hydrocephalus, Mandibular prognathia	ORPHA:2969
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Encephalocele, Cryptorchidism, Choroid plexus cyst, Cleft pala...	OMIM:603671
Dextrocardia	Pancreatic hypoplasia, Hydrocephalus, Meckel diverticulum, Intestinal malrotation	ORPHA:1666
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Cholecystitis, Morbillif...	ORPHA:99827
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Ventriculomegaly, Microcephaly, Protruding tongue, Cerebral atrophy, High palate, Bruxism, Stereo...	OMIM:617804
Netherton Syndrome	Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Chronic rhinitis, Erythroderma	OMIM:256500
Mpdu1-Cdg	Decreased response to growth hormone stimulation test, Ventriculomegaly	ORPHA:79323
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Keratitis, Orchitis, Abnormality of the anterior pituitary, Thyroiditis, ...	ORPHA:449563
Angiostrongyliasis	Gastrointestinal eosinophilia, CSF pleocytosis, Cerebral edema, Ventriculomegaly	ORPHA:74
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Short stature, Microcephaly, Cryptorchidism, Colpocephaly, Gastroesophageal reflux, High palate, ...	OMIM:620083
Endocrine-Cerebroosteodysplasia	Natal tooth, Micrognathia, Laryngeal hypoplasia, Cryptorchidism, Hydrocephalus, Hypoplasia of the...	OMIM:612651
Gaucher Disease, Perinatal Lethal	Microcephaly, Dysphagia, Decreased body weight, Neonatal death, Intrauterine growth retardation, ...	OMIM:608013
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Growth delay, Hypoplasia of the corpus ...	OMIM:252160
Familial Cold Autoinflammatory Syndrome 3	Allergic rhinitis, Asthma, Presyncope, Recurrent otitis media, Hashimoto thyroiditis	OMIM:614468
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip and palate, Microcephaly, Alobar holoprosencephaly, Hydr...	OMIM:610828
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Diffuse cerebral atrophy, Microcephaly, Growth delay, Retractile testis, Secondary microcephaly, ...	OMIM:617193
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Cough, R...	ORPHA:3260
2P15P16.1 Microdeletion Syndrome	Supernumerary nipple, Microcephaly, Growth delay, High palate, Attention deficit hyperactivity di...	ORPHA:261349
Lujo Hemorrhagic Fever	Respiratory distress, Shock, Pharyngitis, Maculopapular exanthema, Skin rash, Crackles, Excessive...	ORPHA:319213
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Congestive heart failure...	OMIM:261740
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Partial agenesis of the corpus callosum, Gastrointestinal dysmotility, ...	OMIM:270400
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma	ORPHA:330064
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Septo-optic dysplasia, Decreased r...	ORPHA:95494
Peroxisome Biogenesis Disorder 5A (Zellweger)	Failure to thrive, Small for gestational age, Cryptorchidism, Macrogyria, Cleft palate, Colpoceph...	OMIM:614866
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Leishmaniasis	Abnormal bleeding, Rhinitis	ORPHA:507
Cryptococcosis	Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Hydrocephalus, Peritonitis, Cough, Pleur...	ORPHA:1546
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Short stature, Abnormal cortical gyration, Cleft palate, Hypoplasia of the corpus callosum, Anal ...	OMIM:300968
Sifrim-Hitz-Weiss Syndrome	Short stature, Cryptorchidism, Anteriorly placed anus, Bifid uvula, Ventriculomegaly	OMIM:617159
Mohr Syndrome	Short stature, Hydrocephalus, Porencephalic cyst, Cleft palate, Tongue nodules, Lobulated tongue,...	OMIM:252100
Fetal Gaucher Disease	Intracranial hemorrhage, Low-set, posteriorly rotated ears	ORPHA:85212
Caribbean Parkinsonism	T2 hypointense basal ganglia, Lewy bodies, Midline brain calcifications, Cerebral cortical atroph...	ORPHA:97355
Developmental And Epileptic Encephalopathy 84	Ventriculomegaly, Microcephaly	OMIM:618792
Vascular Hyalinosis	Hematochezia, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Adnp Syndrome	Short stature, Microcephaly, Oral-pharyngeal dysphagia, Aggressive behavior, Cryptorchidism, Poly...	ORPHA:404448
Tatton-Brown-Rahman Syndrome	Encephalomalacia, Ventriculomegaly	OMIM:615879
Marshall-Smith Syndrome	Apnea, Bilateral cryptorchidism, Aspiration pneumonia, Agenesis of corpus callosum, Recurrent asp...	OMIM:602535
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis, Failure to thrive	OMIM:179010
Igg4-Related Kidney Disease	Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ...	ORPHA:449395
Dubowitz Syndrome	Hypoparathyroidism, Anal stenosis, Short stature, Microcephaly, Postnatal growth retardation, Mal...	ORPHA:235
Cerebrofaciothoracic Dysplasia	Short stature, Cleft palate, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Ventri...	ORPHA:1394
Cystic Fibrosis	Sinusitis, Nasal polyposis, Hearing impairment, Reduced forced expiratory volume in one second, A...	ORPHA:586
Meckel Syndrome, Type 6	Occipital encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly, Cleft palate, Bile duct ...	OMIM:612284
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage, Respiratory insufficiency	OMIM:615368
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Short stature, Stomach cancer, Microcephaly, Cleft palate, Aplasia/Hypoplas...	ORPHA:1052
Carnitine Palmitoyltransferase Ii Deficiency	Neonatal respiratory distress, Hydrocephalus, Tubulointerstitial nephritis, Cardiomyopathy, Arrhy...	ORPHA:157
Pitt-Hopkins Syndrome	Supernumerary nipple, Microcephaly, Cryptorchidism, Self-injurious behavior, Secondary microcepha...	OMIM:610954
Osteopetrosis, Autosomal Recessive 5	Short stature, Microcephaly, Hydrocephalus, Diffuse white matter abnormalities, Cerebral atrophy,...	OMIM:259720
Pfeiffer Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus	OMIM:101600
Multiple Sulfatase Deficiency	Hydrocephalus, Short stature, Microcephaly	ORPHA:585
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Hydrocephalus, Cleft soft palate, Cleft palate	ORPHA:2736
Jacobsen Syndrome	Microcephaly, Pyloric stenosis, Hydrocephalus, Cryptorchidism, Holoprosencephaly, Intrauterine gr...	OMIM:147791
Hypophosphatasia, Infantile	Intracranial hemorrhage, Apnea	OMIM:241500
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Bilateral cryptorchidism, Pyloric stenosis, High palate, Short stature	ORPHA:314575
Acrodysostosis 1 With Or Without Hormone Resistance	Mild postnatal growth retardation, Short stature, Small for gestational age, Cryptorchidism, Hydr...	OMIM:101800
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Chromosome 18Q Deletion Syndrome	Short stature, Decreased response to growth hormone stimulation test, Failure to thrive in infanc...	OMIM:601808
Aicardi Syndrome	Intestinal polyposis, Microcephaly, Hiatus hernia, Malabsorption, Partial agenesis of the corpus ...	ORPHA:50
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Posteriorly rotated ears, Hydrocephalus, Right bundle branch block, Low-set ears, Malar flattening	OMIM:618590
Cardiomyopathy, Familial Hypertrophic, 27	Ventriculomegaly	OMIM:618052
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cleft hard palate, Large basal ganglia, Abnormal repetitive mannerisms, Agenesis of corpus callos...	ORPHA:261552
Xeroderma Pigmentosum, Complementation Group B	Basal ganglia calcification, Short stature, Ventriculomegaly, Microcephaly	OMIM:610651
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Microcephaly, Disproportionate short stature, Truncal obesity, Attention deficit hyperactivity di...	ORPHA:2637
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus callosum,...	ORPHA:457284
Intrinsic Factor Deficiency	Absence of intrinsic factor	OMIM:261000
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Sensorineural hearing impairment, Respira...	OMIM:615636
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Malar flattening, Hydrocephalus, Abnormal pinna morphology, Upper airway obstruction	OMIM:207410
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Postnatal growth retardation, Intrauterine growth retardation, Porencephalic cyst, Ventriculomegaly	OMIM:612394
Fanconi Anemia, Complementation Group L	Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Growth delay, Attenti...	OMIM:614083
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Paranasal sinus hypoplasia, Apnea, Laryngeal web, Posteriorly rotated ears, Microgna...	OMIM:300373
Opitz Gbbb Syndrome	Enlarged ovaries, Short stature, Microcephaly, Cryptorchidism, Tracheoesophageal fistula, Cleft p...	ORPHA:2745
Achondroplasia	Respiratory distress, Conductive hearing impairment, Hydrocephalus, Upper airway obstruction, Rec...	OMIM:100800
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Short stature, Aggressive behavior, Cryptorchidism, Hydrocephalus, ...	ORPHA:96121
Xfe Progeroid Syndrome	Severe short stature, Cachexia, Microcephaly, Failure to thrive, Ventriculomegaly	OMIM:610965
Roifman-Chitayat Syndrome	Ventriculomegaly	OMIM:613328
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Micrognathia	ORPHA:1064
Martsolf Syndrome 1	Enlarged sylvian cistern, Short stature, Microcephaly, Cryptorchidism, High palate, Periventricul...	OMIM:212720
Phelan-Mcdermid Syndrome	Microcephaly, Aggressive behavior, Tongue thrusting, High palate, Gastroesophageal reflux, Bruxis...	OMIM:606232
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Ectopic posterior pituitary, Short stature, Decreased response to growth hormone stimulation test...	ORPHA:67045
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Apnea, Posteriorly rotated ears, Micrognathia, Hypoplasia of the max...	ORPHA:2462
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, High palate, Protein-l...	ORPHA:1655
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Dyspnea, Abnormal lymphatic vessel morphology,...	ORPHA:464329
Leukocyte Adhesion Deficiency	Abnormal bleeding, Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infe...	ORPHA:2968
Jacobsen Syndrome	Short stature, Intestinal malrotation, Spina bifida, Pyloric stenosis, Cryptorchidism, Cerebral a...	ORPHA:2308
Alg12-Cdg	Abnormal pinna morphology, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Recurrent pneu...	ORPHA:79324
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Megalencephaly, Large for gestational age, Thick corpus callosum, Hi...	OMIM:617011
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Respiratory distress, Patent ductus arteriosus, Stroke, Low-set ears...	OMIM:618188
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ventriculomegaly, Aggressive behavior, Cerebral atrophy, Abnormal cerebral white matter morpholog...	OMIM:618321
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Micrognathia, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformatio...	ORPHA:109
Hypoplasminogenemia	Cervicitis, Hydrocephalus, Periodontitis, Dandy-Walker malformation	ORPHA:722
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Pyloric stenosis, Cerebral atrophy, Dysphagia, Failure to thrive, Thin corpus callosum	OMIM:619461
Ichthyosis Prematurity Syndrome	Neonatal asphyxia, Asthma, Allergic rhinitis, Erythroderma	OMIM:608649
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Respiratory insuff...	OMIM:232300
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Telangiectasia of the skin, Decreased response to growth hormone stimulati...	OMIM:616007
Kapur-Toriello Syndrome	Intestinal malrotation, Pachygyria, Dysplastic corpus callosum, Failure to thrive, Polymicrogyria	ORPHA:2328
D-Bifunctional Protein Deficiency	Failure to thrive, Cerebral dysmyelination, Corpus callosum atrophy, Cortical dysplasia, Cerebral...	OMIM:261515
Distal Deletion 3P	Short stature, Microcephaly, Cryptorchidism, Cleft palate, High palate, Intrauterine growth retar...	ORPHA:1620
Orofaciodigital Syndrome I	Short stature, Abnormal cortical gyration, Hamartoma of tongue, Microcephaly, Pancreatic cysts, H...	OMIM:311200
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Apnea, Hydrocephalus, Pulmonary artery stenosis, Chronic rhinitis, Oti...	ORPHA:667
Mucopolysaccharidosis, Type Vii	Hearing impairment, Hydrocephalus, Recurrent upper respiratory tract infections, Sensorineural he...	OMIM:253220
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Oral-pharyngeal dysphagia, Microcephaly, Postnatal growth retardation, High, narrow palate, Abnor...	OMIM:300966
Neu-Laxova Syndrome	Dandy-Walker malformation, Cerebral calcification, Absent septum pellucidum, Abnormal cortical gy...	ORPHA:2671
Coloboma, Ocular, Autosomal Dominant	Growth delay, Ventriculomegaly	OMIM:120200
Short Stature, Microcephaly, And Endocrine Dysfunction	Short stature, Microcephaly, Cryptorchidism, Simplified gyral pattern, Truncal obesity, Dispropor...	OMIM:616541
Isovaleric Acidemia	Cerebellar hemorrhage	OMIM:243500
Coffin-Lowry Syndrome	Short stature, Microcephaly, Narrow palate, Aplasia/Hypoplasia of the corpus callosum, Self-injur...	ORPHA:192
Holoprosencephaly 3	Microcephaly, Cleft palate, Holoprosencephaly, Bifid uvula, Ventriculomegaly	OMIM:142945
Loeys-Dietz Syndrome 1	Eosinophilic infiltration of the esophagus, Arterial tortuosity, Micrognathia, Descending thoraci...	OMIM:609192
Gabriele-De Vries Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Oral-pharyngeal...	ORPHA:506358
Short-Rib Thoracic Dysplasia 12	Intestinal malrotation, Hamartoma of tongue, Hydrocephalus, Anencephaly, Lobulated tongue, Holopr...	OMIM:269860
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Mixed hearing impairment, Thoracic aortic aneurysm, Repeated pneumothoraces...	ORPHA:536467
Monosomy 9Q22.3	Hyperactivity, Ovarian fibroma, Large for gestational age, Hydrocephalus, Calcification of falx c...	ORPHA:77301
Stormorken Syndrome	Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility	OMIM:185070
Saul-Wilson Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Short stature, Ventriculomegaly	OMIM:618150
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebral atrophy, Decreased CSF copper concentration, Ventriculomegaly, Increased CSF lactate	OMIM:620306
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Cleft soft palate, Intestinal malrotation, Microcephaly, Hydrocephalus, Abdominal ...	OMIM:619321
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Hydrocephalus, Esophageal varix, Growth delay, Azoospermia, Gastric ulcer, Abnormal tem...	ORPHA:2072
Non-24-Hour Sleep-Wake Syndrome	Abnormal pineal melatonin secretion	ORPHA:73267
Menkes Disease	Intracranial hemorrhage	OMIM:309400
6Q Terminal Deletion Syndrome	Failure to thrive, High, narrow palate, Obesity, Abnormal cerebral white matter morphology, Colpo...	ORPHA:75857
Immunodeficiency 58	Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Asthma, ...	OMIM:618131
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Short stature, Abnormal thalamus morphology, Focal white matter lesions	ORPHA:557003
Chondrodysplasia Punctata 2, X-Linked Dominant	Dandy-Walker malformation, Rhizomelia, Postnatal growth retardation, Failure to thrive, Ventricul...	OMIM:302960
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, Bronchiectasis	OMIM:208900
Zttk Syndrome	Absent gallbladder, Failure to thrive, Short stature, Dysplastic corpus callosum, Submucous cleft...	OMIM:617140
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Intrauterine growth retardation, Cerebral edema, Ventriculomegaly	OMIM:619355
Cole-Carpenter Syndrome	Communicating hydrocephalus, Delayed eruption of teeth, Abnormal dental enamel morphology, Microg...	ORPHA:2050
Culler-Jones Syndrome	Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Cleft ...	OMIM:615849
Hennekam-Beemer Syndrome	Short stature, Microcephaly, High palate, Failure to thrive, Ventriculomegaly	ORPHA:2135
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Cryptorchidism, Pancreatic lymphangiectasis, Cleft palate, High palate, Protein-losing enteropath...	OMIM:235255
Prader-Willi Syndrome	Short stature, Decreased response to growth hormone stimulation test, Failure to thrive in infanc...	OMIM:176270
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Mixed hearing impairment, Thickened helices, Adenoiditis, Abnormality ...	ORPHA:581
Kaufman Oculocerebrofacial Syndrome	Short stature, Intestinal malrotation, Microcephaly, High palate, Hypoplasia of the corpus callos...	OMIM:244450
Combined Oxidative Phosphorylation Deficiency 55	Short stature, Microcephaly, High palate, Thin corpus callosum, Ventriculomegaly	OMIM:619743
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly, Cleft palate	ORPHA:1335
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Micrognathia, Respiratory insufficiency, Normal pressure hydrocephalus, ...	OMIM:620351
Scheie Syndrome	Aortic regurgitation, Sensorineural hearing impairment, Rhinitis	ORPHA:93474
Slc39A8-Cdg	Short stature, Failure to thrive in infancy, Increased CSF lactate, Disproportionate short-limb s...	ORPHA:468699
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Short stature, Microcephaly, Hypoplasia of the pons, Cryptorchidism, Hypoplastic anterior commiss...	OMIM:616975
Cardiofaciocutaneous Syndrome 1	Failure to thrive, Short stature, Hydrocephalus, Tongue thrusting, Submucous cleft hard palate, A...	OMIM:115150
Kinsship Syndrome	Failure to thrive, Short stature, Microcephaly, Bruxism, Ankyloglossia, Gastroesophageal reflux, ...	OMIM:619297
Aymé-Gripp Syndrome	Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Breast hypoplasia, Cl...	ORPHA:1272
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Apnea, Portal hypertension, Hydrocephalus, Low-set ears, Abnormal patter...	ORPHA:1454
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Short stature, Decreased response to growth hormone stimulation test, Cleft soft palate, Microcep...	ORPHA:268261
Mosaic Trisomy 9	Intestinal malrotation, Spina bifida, Microcephaly, Cryptorchidism, Cleft palate, High palate, In...	ORPHA:99776
Parkes Weber Syndrome	Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac...	ORPHA:90307
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida, Ventriculomegaly	ORPHA:1120
Otopalatodigital Syndrome Type 2	Encephalocele, Abnormal pinna morphology, Micrognathia, Hydrocephalus, Hypoplastic frontal sinuse...	ORPHA:90652
Shprintzen-Goldberg Craniosynostosis Syndrome	Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Hypoplasia of the maxilla, Cry...	OMIM:182212
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	High palate, Gastroesophageal reflux, Compulsive behaviors, Abnormal repetitive mannerisms, Abnor...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	High palate, Gastroesophageal reflux, Compulsive behaviors, Abnormal repetitive mannerisms, Abnor...	ORPHA:353277
Wolf-Hirschhorn Syndrome	Short stature, Absent septum pellucidum, Small for gestational age, Microcephaly, Abnormal repeti...	OMIM:194190
Bohring-Opitz Syndrome	Short stature, Cholelithiasis, Microcephaly, Cleft palate, Hypoplasia of the corpus callosum, Sev...	ORPHA:97297
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Failure to thrive in infancy, Microcephaly, Growth delay, High palate, Hypoplasia of the corpus c...	OMIM:619418
De Sanctis-Cacchione Syndrome	Severe short stature, Microcephaly, Bilateral cryptorchidism, Basal ganglia calcification, Cerebr...	OMIM:278800
Bloom Syndrome	Skin rash, Pneumonia, Micrognathia, Chronic pulmonary obstruction, Cheilitis, Uveitis, Telangiect...	ORPHA:125
Hurler Syndrome	Aortic regurgitation, Hydrocephalus, Cardiomyopathy, Mitral regurgitation, Recurrent otitis media...	OMIM:607014
Tarp Syndrome	Posteriorly rotated ears, Micrognathia, Subdural hemorrhage, Prominent antihelix, Microtia, Low-s...	OMIM:311900
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Anal atresia, Intestinal malrotation, Microcep...	OMIM:249000
Immunodeficiency 56	Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic hepatitis due to c...	OMIM:615207
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Cardiofaciocutaneous Syndrome	Abnormality of the gastrointestinal tract, Short stature, Failure to thrive in infancy, Cryptorch...	ORPHA:1340
Codas Syndrome	Short stature, Cryptorchidism, Gastroesophageal reflux, Rectovaginal fistula, Hypoplasia of the c...	OMIM:600373
Laurin-Sandrow Syndrome	Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2378
Thoracoabdominal Syndrome	Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition of the great arteries	OMIM:313850
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, Hydrocephalus, Low-set ears	OMIM:104350
Developmental And Epileptic Encephalopathy 100	Protruding tongue, Polymicrogyria, Cerebral atrophy, High palate, Gastroesophageal reflux, Dyspha...	OMIM:619777
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Aggressive behavior, Obesity, Self-injurious behavior, Truncal obesity, Gastroesophageal reflux, ...	ORPHA:466950
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal aortic arch morphology, Chronic otitis media, Conductive hearing impairmen...	ORPHA:567
Developmental Delay With Or Without Dysmorphic Facies And Autism	Short stature, Supernumerary nipple, Microcephaly, Cryptorchidism, Atrophy/Degeneration affecting...	OMIM:618454
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Pituitary dwarfism, Anterior pituitary hypoplasia, Decreased respons...	ORPHA:226307
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Hydrocephal...	ORPHA:505248
Chromosome 17P13.1 Deletion Syndrome	Diffuse cerebral atrophy, Spina bifida, Microcephaly, High, narrow palate, Hydrocephalus, Hydroce...	OMIM:613776
Congenital Disorder Of Glycosylation, Type Iit	Abnormal cerebral white matter morphology, Microcephaly, Short stature, Pineal cyst	OMIM:618885
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Carious teeth, Asthma, Skin rash, Allergic rhinitis	OMIM:612714
Raine Syndrome	Mandibular prognathia, Natal tooth, Mixed hearing impairment, Posteriorly rotated ears, Abnormal ...	OMIM:259775
Kabuki Syndrome	Short stature, Microcephaly, Cryptorchidism, Hydrocephalus, Obesity, Cleft palate, High palate, F...	ORPHA:2322
Mend Syndrome	Hyperactivity, Short stature, Cryptorchidism, Hydrocephalus, High palate, Failure to thrive, Dand...	OMIM:300960
Stankiewicz-Isidor Syndrome	Cryptorchidism, Hyperactivity, Pineal cyst	OMIM:617516
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Dyspnea, Hydrocephalus, Pneumothorax, Restrictive ventilatory defect...	ORPHA:538
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension, Acne, Testicular adrenal rest tumor	ORPHA:90795
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr...	ORPHA:99901
Fraser Syndrome 3	Simple ear, Hydrocephalus, Low-set ears, Micrognathia	OMIM:617667
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Megalencephaly, Large for gestational age, Diffuse white matter abno...	ORPHA:457359
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Failure to thrive, Secondary microcephaly, Short stature	OMIM:619423
Gaucher Disease, Type Iiic	Hydrocephalus, Mitral stenosis, Calcification of the aorta	OMIM:231005
Takenouchi-Kosaki Syndrome	Cryptorchidism, Abnormal cerebral white matter morphology, Progressive microcephaly, Hypoplasia o...	OMIM:616737
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus, Pyloric stenosis	ORPHA:1571
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Micrognathia, Osteoarthritis, Intracranial hemorrhage, Conductive hearing ...	ORPHA:740
Holoprosencephaly	Encephalocele, Median cleft lip and palate, Failure to thrive in infancy, Microcephaly, Cryptorch...	ORPHA:2162
Trisomy 8P	Dandy-Walker malformation, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Recurrent upp...	ORPHA:264450
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract, Rectal abscess	OMIM:600145
Loeys-Dietz Syndrome 2	Micrognathia, Descending thoracic aorta aneurysm, Abdominal aortic aneurysm, Eosinophilic infiltr...	OMIM:610168
Menkes Disease	Gastrointestinal hemorrhage, Osteomyelitis, Micrognathia, Venous insufficiency, Arterial stenosis...	ORPHA:565
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, De...	OMIM:102500
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Cryptorchidism, High palate, Periventricular white matter hyperintensities, Ventriculomegaly	OMIM:620224
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul...	ORPHA:263665
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Aggressive behavior, Gastrointestinal dysmotility, Obesity, Self-injurious behavior, Gastroesopha...	ORPHA:466943
Cousin Syndrome	Posteriorly rotated ears, Micrognathia, Hydrocephalus, Low-set ears, Hydranencephaly, Microtia, f...	OMIM:260660
Fanconi Anemia	Anal atresia, Short stature, Aganglionic megacolon, Spina bifida, Microcephaly, Aplasia/Hypoplasi...	ORPHA:84
Esophageal Atresia	Barrett esophagus, Small for gestational age, Intestinal malrotation, Failure to thrive in infanc...	ORPHA:1199
Eosinophilic Gastroenteritis	Hematochezia, Asthma, Atopic dermatitis, Allergic rhinitis	ORPHA:2070
Rabson-Mendenhall Syndrome	Enlarged ovaries, Short stature, Furrowed tongue, Severe postnatal growth retardation, Macrogloss...	ORPHA:769
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Small for gestational age, Decreased CSF albumin concentration, Cerebral atrophy, Decreased CSF b...	ORPHA:404454
Palmoplantar Carcinoma, Multiple Self-Healing	Corneal neovascularization, Chronic rhinitis	OMIM:615225
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath...	ORPHA:363618
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma	ORPHA:64743
Congenital Myopathy 13	Short stature, Microcephaly, Cryptorchidism, Cleft palate, High palate, Ventriculomegaly	OMIM:255995
Joubert Syndrome 38	Ectopic posterior pituitary, Short stature, Decreased response to growth hormone stimulation test...	OMIM:619476
Tay-Sachs Disease	Hypointensity of cerebral white matter on MRI, Abnormal thalamic MRI signal intensity, Ventriculo...	ORPHA:845
Molybdenum Cofactor Deficiency, Complementation Group A	Microcephaly, Cerebral atrophy, Growth delay, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:252150
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Dyspnea, Rhinitis, Orthostatic syncope, Syncope	ORPHA:230
Genitopatellar Syndrome	Anal stenosis, Microcephaly, Cryptorchidism, Malrotation of small bowel, Anteriorly placed anus, ...	OMIM:606170
Classic Homocystinuria	Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ...	ORPHA:394
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Impulsivity, Aggressive behavior, Dysplastic corpus callosum, High, narrow palate, Cryptorchidism...	OMIM:300967
Degcags Syndrome	Micrognathia, Agenesis of corpus callosum, Cryptorchidism, Patent ductus arteriosus, Pulmonic ste...	OMIM:619488
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Cleft palate, Leukoencephalopathy, Hypoplasia of the corpus callosum,...	OMIM:614924
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cleft palate, Ovarian...	OMIM:109400
1P36 Deletion Syndrome	Short stature, Microcephaly, Abnormal repetitive mannerisms, Pyloric stenosis, Cryptorchidism, Po...	ORPHA:1606
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Fetal Akinesia Deformation Sequence 1	Small for gestational age, Absent septum pellucidum, High, narrow palate, Hydrocephalus, Cryptorc...	OMIM:208150
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Cortical dysplasia, Polymicrogyria, Ventriculomegaly, Hypoplasia of the brainstem	OMIM:618343
14Q22Q23 Microdeletion Syndrome	Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Agenesis of corpus callosum, Ventri...	ORPHA:264200
Tbck-Related Intellectual Disability Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, High, narrow palate, Cryptor...	ORPHA:488632
Immunodeficiency 23	Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Asthma, Sensorineural hearin...	OMIM:615816
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Supernumerary nipple, Cryptorchidism, Colpocephaly, Hypoplasia of the corpus callosum, Cerebral w...	ORPHA:477993
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus, Failure to thrive, Cerebral cortical atrophy, Microcephaly	OMIM:277400
Au-Kline Syndrome	Failure to thrive, Supernumerary nipple, Cryptorchidism, Lipomyelomeningocele, Cleft palate, Gast...	OMIM:616580
Meckel Syndrome	Encephalocele, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Microcephaly, Pancreatic cy...	ORPHA:564
Cockayne Syndrome Type 3	Carious teeth, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Keratoconjunctivitis sicc...	ORPHA:90324
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Cardiomyopathy, Sensorineural hearing impairment	OMIM:616084
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Microretrognathia, Micrognathia, Hydrocephalus, Aortic root aneurysm, Microtia, Low-set ears, Pro...	OMIM:245600
Congenital Enterovirus Infection	Ventriculomegaly, CSF lymphocytic pleiocytosis	ORPHA:292
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Tics, High palate, Compulsive behaviors, Abnormal repetitive mannerisms, Res...	OMIM:619475
Gaucher Disease	Abnormal bleeding, Osteomyelitis, Hydrocephalus, Osteoarthritis, Cherry red spot of the macula, H...	ORPHA:355
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Tricuspid regurgitation, Abnormal dental enamel morphology, Micrognathia, D...	ORPHA:2556
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Cryptorchidism, Patent ductus arteriosus, Cerebral hemorrhage	OMIM:616682
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hydrocele testis, Dysplastic corpus callosum, Neonatal death	OMIM:618810
Witteveen-Kolk Syndrome	Microretrognathia, Unilateral cryptorchidism, Eczema, Decreased response to growth hormone stimul...	OMIM:613406
Campomelic Dysplasia	Cleft palate, Short stature, Ventriculomegaly	ORPHA:140
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Short stature, Microcephaly, Neuronal loss in the cerebral cortex, Truncal obesity, Cerebral cort...	OMIM:301072
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Fetal intraventricular hemorrhage, Low-set ears	OMIM:618480
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Patent ductus arteriosus, Hydrocephalus, Abnormal mandible ...	ORPHA:955
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Pituitary adenom...	ORPHA:805
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du...	OMIM:174900
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Skin rash, Hepatitis, Abnormal respiratory...	ORPHA:90062
Adams-Oliver Syndrome 1	Encephalocele, Periventricular leukomalacia, Supernumerary nipple, Microcephaly, Cortical dysplas...	OMIM:100300
Reynolds Syndrome	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia	ORPHA:779
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Aortic regurgitation, Mandibular prognathia, Mixed hearing impairmen...	ORPHA:309282
Microphthalmia, Syndromic 5	Cryptorchidism, Ectopic posterior pituitary, Short stature, Cleft palate	OMIM:610125
2Q31.1 Microdeletion Syndrome	Short stature, Microcephaly, Cryptorchidism, Cleft palate, Cerebral cortical atrophy, Ventriculom...	ORPHA:251014
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal bleeding, Abnormal paranasal sinus morphology, Intestinal lymphangiectasia	OMIM:207731
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Growth delay, Failure to thrive, Smooth tongue, Ventriculomegaly	ORPHA:79396
Schinzel-Giedion Midface Retraction Syndrome	Postnatal growth retardation, Splenopancreatic fusion, Cerebral atrophy, Macroglossia, Hypoplasti...	OMIM:269150
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Short stature, Small for gestational age, Microcephaly, Cryptorchidism, Cerebral a...	OMIM:309590
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Microcephaly, Protruding tongue, Perisylvian predominant thick corte...	ORPHA:98889
Lenz-Majewski Hyperostotic Dwarfism	Severe short stature, Absent septum pellucidum, High, narrow palate, Hydrocephalus, Submucous cle...	ORPHA:2658
Cockayne Syndrome A	Mandibular prognathia, Abnormal pinna morphology, Delayed eruption of primary teeth, Abnormal aud...	OMIM:216400
Peters Plus Syndrome	Intestinal fistula, Anal atresia, Short stature, Rhizomelia, Microcephaly, Postnatal growth retar...	ORPHA:709
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Tricuspid regurgitation, Micrognathia, Cryptorchidism, Patent ductus arter...	ORPHA:261337
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Ventriculomegaly, Anal stenosis, Hydrocele testis, High palate, Gastroesophageal reflux, Hypoplas...	ORPHA:280633
Distal Deletion 12Q	Hyperactivity, Short stature, Unilateral cryptorchidism, Failure to thrive in infancy, Microcepha...	ORPHA:96149
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,...	ORPHA:2396
Smith-Lemli-Opitz Syndrome	Short stature, Rhizomelia, Aganglionic megacolon, Microcephaly, Pyloric stenosis, Cryptorchidism,...	ORPHA:818
Cornelia De Lange Syndrome	Short stature, Intestinal malrotation, Microcephaly, Pyloric stenosis, Cryptorchidism, Delayed pu...	ORPHA:199
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Cerebral atrophy, Ventriculomegaly, Intrauterine growth retardation	OMIM:618164
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Mandibular prognathia, Osteoarthritis, Subdural hemorrhage, Long ear	OMIM:619714
Oeis Complex	Intestinal malrotation, Cryptorchidism, Hydrocephalus, Myelomeningocele, Anteriorly placed anus, ...	OMIM:258040
Fructose-1,6-Bisphosphatase Deficiency	Ventriculomegaly	ORPHA:348
Mitochondrial Complex I Deficiency, Nuclear Type 2	Ventriculomegaly	OMIM:618222
Costello Syndrome	Short stature, Pyloric stenosis, Hydrocephalus, Cerebral atrophy, Macroglossia, High palate, Fail...	OMIM:218040
Knobloch Syndrome 1	Occipital encephalocele, Absent septum pellucidum, Microcephaly, Pyloric stenosis, Spina bifida o...	OMIM:267750
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Short stature, Decreased response ...	ORPHA:90695
Distal Deletion 6P	Self-injurious behavior, Ventriculomegaly	ORPHA:96125
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Allergic rhinitis	ORPHA:90368
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short stature, Reduced cerebral white matter volume, Microcephaly, Perisylvian polymicrogyria, Ce...	OMIM:610442
Gapo Syndrome	High, narrow palate, Growth delay, Hypoplastic nipples, Breast hypoplasia, Ventriculomegaly	OMIM:230740
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Cleft palate, Stillbirth, Seve...	OMIM:236680
Neu-Laxova Syndrome 1	Spina bifida, Cryptorchidism, Choroid plexus cyst, Cleft palate, Stillbirth, Lissencephaly, Neona...	OMIM:256520
Full Nf2-Related Schwannomatosis	Myelopathy, Brain stem compression, Hydrocephalus, Dysphagia	ORPHA:637
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Micrognathia, Carious t...	OMIM:114290
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Eosin...	OMIM:613795
Intrahepatic Cholestasis Of Pregnancy	Abnormal pineal melatonin secretion, Small for gestational age	ORPHA:69665
Mowat-Wilson Syndrome	Short stature, Aganglionic megacolon, Supernumerary nipple, Microcephaly, Aplasia/Hypoplasia of t...	OMIM:235730
Microphthalmia With Limb Anomalies	Low-set, posteriorly rotated ears, Hypoplasia of the premaxilla, Micrognathia, Venous insufficien...	ORPHA:1106
Postaxial Acrofacial Dysostosis	Supernumerary nipple, Postnatal growth retardation, Pyloric stenosis, Midgut malrotation, Cryptor...	OMIM:263750
Yunis-Varon Syndrome	Short stature, Postnatal growth retardation, High, narrow palate, Hydrocephalus, Pyloric stenosis...	ORPHA:3472
Fontaine Progeroid Syndrome	Absent nipple, Short stature, Small for gestational age, Microcephaly, Protruding tongue, High, n...	OMIM:612289
Lowe Oculocerebrorenal Syndrome	Short stature, Aggressive behavior, Postnatal growth retardation, Cryptorchidism, Periventricular...	OMIM:309000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Thin corpus callosum, Failure to thrive, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:618278
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Adrenal hyperplasia, Elevated circulating luteinizing hormone level, Enlarged polycystic ovaries,...	ORPHA:95699
Fraser Syndrome 1	Subglottic stenosis, Laryngeal stenosis, Encephalocele, Abnormal pinna morphology, Cryptorchidism...	OMIM:219000
Tetraamelia Syndrome 1	Anal atresia, Hydrocephalus, Adrenal gland agenesis, Cleft palate	OMIM:273395
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Intestinal malrotation, Esophageal atresia, Choroid plexus cyst, Tracheoesophageal fistula, Cleft...	OMIM:265380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Type II lissencephaly, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Hy...	OMIM:253280
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Micrognathia, Emphysema, Micr...	OMIM:619472
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology	ORPHA:234
Thalidomide Embryopathy	Anotia, Chronic rhinitis, Hearing impairment	ORPHA:3312
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short stature, Spina bifida, Microcephaly, Abnormal repetitive mannerisms, Hypoplasia of the corp...	ORPHA:508498
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Thin corpus callosum, Ventriculomegaly, Microcephaly	OMIM:620066
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Otosclerosis, Conductive hearing impairment, Sensorineural hearing i...	ORPHA:580
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Limb Body Wall Complex	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Cleft palate, Abnormal...	ORPHA:2369
Aicardi-Goutières Syndrome	Cerebral calcification, Short stature, Microcephaly, Porencephalic cyst, Chronic CSF lymphocytosi...	ORPHA:51
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Microcephaly, Postnatal growth retardation, Hypoplasia of the corpus callosum, Abnormal periventr...	ORPHA:487796
Schinzel-Giedion Syndrome	Streak ovary, Aganglionic megacolon, Failure to thrive in infancy, Choroid plexus cyst, Anteriorl...	ORPHA:798
Skin Creases, Congenital Symmetric Circumferential, 2	Short stature, Microcephaly, Cryptorchidism, Cleft palate, Hypoplasia of the corpus callosum, Ven...	OMIM:616734
Ring Chromosome 7 Syndrome	Short stature, Microcephaly, Cleft palate, Hydrocele testis, Bifid uvula, Holoprosencephaly, Seve...	ORPHA:1449
Tetrasomy 9P	Pericarditis, Myositis, Juxtaductal coarctation of the aorta, Abnormal dental enamel morphology, ...	ORPHA:3310
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Esophageal atresia, Congenital pyloric atresia	OMIM:226730
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Allergic rhinitis, Eosinophilic infiltration of the esophagus, Eosinophilic microabscess formatio...	ORPHA:411696
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Anterior pituitary hypoplasia, Supernumerary nipple, Aggressive behavior, Bilateral cryptorchidis...	ORPHA:466791
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Rhizomelia, Short stature, Microcephaly, Pancreatic cysts, Macroglossia, High palate, Hypoplasia ...	OMIM:266920
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Posterior pituitary hypoplasia, Short stature	OMIM:613986
Pseudoaminopterin Syndrome	Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, Mild conductive h...	ORPHA:221120
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mandibular prognathia, Anterior pituitary hypoplasia, Epistaxis, Mic...	OMIM:619841
Hardikar Syndrome	Short stature, Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophageal...	OMIM:301068
Cockayne Syndrome B	Mandibular prognathia, Abnormal pinna morphology, Delayed eruption of primary teeth, Abnormal aud...	OMIM:133540
Peters-Plus Syndrome	Rhizomelia, Bilobate gallbladder, Microcephaly, Postnatal growth retardation, Cryptorchidism, Hyd...	OMIM:261540
Combined Oxidative Phosphorylation Deficiency 3	Intrauterine growth retardation, Ventriculomegaly	OMIM:610505
Baller-Gerold Syndrome	Severe short stature, Short stature, Hydrocephalus, Cleft palate, Perineal fistula, Anteriorly pl...	OMIM:218600
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Short stature, Malabsorption, Cryptorchidism, Narrow palate, Self-injurious ...	ORPHA:534
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Esophageal atresia, Cryptorchidism, Bifid tongue, Ectopic anus, Disproportionate short-limb short...	ORPHA:93271
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ectopic posterior pituitary, Hyperactivity, Short stature, Infancy o...	ORPHA:508488
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Anterior pituitary age...	OMIM:620303
Coffin-Lowry Syndrome	Short stature, Microcephaly, Rectal prolapse, Narrow palate, High palate, Decreased body weight, ...	OMIM:303600
Townes-Brocks Syndrome 1	Anal stenosis, Rectoperineal fistula, Small for gestational age, Microcephaly, Cryptorchidism, Hy...	OMIM:107480
Meester-Loeys Syndrome	High palate, Short stature, Bifid uvula, Ventriculomegaly	OMIM:300989
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Abnormal paranasal sinus morphology, Patent ductus arteriosus,...	ORPHA:141099
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla...	ORPHA:95455
Ctcf-Related Neurodevelopmental Disorder	Small for gestational age, Microcephaly, Cryptorchidism, Cleft palate, Gastroesophageal reflux, A...	ORPHA:363611
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Prominent scalp veins, Natal tooth, Posteriorly rotated ears, Pneumoni...	OMIM:264090
Microphthalmia, Syndromic 6	Microcephaly, Cryptorchidism, Microglossia, Cleft palate, Aplasia/Hypoplasia of the corpus callos...	OMIM:607932
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Rhinitis	OMIM:614941
Neurofibromatosis Type 1	Short stature, Cryptorchidism, Hydrocephalus, Pheochromocytoma, Attention deficit hyperactivity d...	ORPHA:636
17Q24.2 Microdeletion Syndrome	Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b...	ORPHA:529962
Ulnar-Mammary Syndrome	Anal stenosis, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Pyloric stenosis, Obes...	OMIM:181450
Focal Dermal Hypoplasia	Short stature, Intestinal malrotation, Supernumerary nipple, Microcephaly, Hiatus hernia, Cryptor...	OMIM:305600
White-Kernohan Syndrome	Dysplastic corpus callosum, Obesity, Anteriorly placed anus, Gastroesophageal reflux, Rectovagina...	OMIM:619426
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Eczema, Hypoplasia of the maxilla, Rhinitis, Taurodontia	OMIM:305100
Spondylodysplastic Ehlers-Danlos Syndrome	Cryptorchidism, Agenesis of pineal gland, Short stature, Cleft palate	ORPHA:536471
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Head-banging, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Dpagt1-Cdg	Intracranial hemorrhage, Prolonged QT interval, Hearing impairment, Stroke-like episode	ORPHA:86309
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, High palate, Abnormal duoden...	OMIM:601776
Acute Transverse Myelitis	Orthostatic hypotension, Subarachnoid hemorrhage, CSF pleocytosis, Hypertension, Hypoglycorrhachi...	ORPHA:139417
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Calcification of the auricular cartilage, Bilateral cryptorchidism, Hydrocephalus, Conductive hea...	ORPHA:3042
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Dilated fourth ventricle, Short stature, Abnormal cortical gyration, Cyst of the ductus choledoch...	ORPHA:480880
Exstrophy-Epispadias Complex	Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Microcephaly, Cryptorchid...	ORPHA:322
Primrose Syndrome	Restlessness, Cerebral calcification, Short stature, Aggressive behavior, Bilateral cryptorchidis...	OMIM:259050
Otopalatodigital Syndrome, Type Ii	Posteriorly rotated ears, Spina bifida, Micrognathia, Cryptorchidism, Hydrocephalus, Respiratory ...	OMIM:304120
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Duplicated tragus, Patent ductu...	OMIM:164210
Oculoectodermal Syndrome	Growth delay, Hyperactivity, Supernumerary nipple, Pineal cyst	OMIM:600268
Coffin-Siris Syndrome 12	Overfolding of the superior helices, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Sens...	OMIM:619325
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Natal tooth, Recurrent skin infections, Decreased response to growth hormo...	ORPHA:3455
Pmm2-Cdg	Respiratory distress, Mandibular prognathia, Pericarditis, Angina pectoris, Abnormal pinna morpho...	ORPHA:79318
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Short stature, Aganglionic megacolon, Microcephaly, Cryptorchidism, Cleft palate, Growth delay, H...	OMIM:308205
Mowat-Wilson Syndrome	Cleft hard palate, Gastrointestinal dysmotility, Large basal ganglia, Abnormal repetitive manneri...	ORPHA:2152
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Neonatal respiratory distress, Cryptorchidism, Hydrocephalus, Patent ductu...	OMIM:312870
Carney Complex	Pituitary growth hormone cell adenoma, Neoplasm of the stomach, Increased body weight, Leydig cel...	ORPHA:1359
African Trypanosomiasis	Abnormal basal ganglia MRI signal intensity, Aggressive behavior, Myelopathy, Weight loss, Abnorm...	ORPHA:3385
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Cerebral white matter atrophy, Short stature, Abnormal globus pallidus morphology, Growth delay, ...	ORPHA:99646
Williams Syndrome	Rectal prolapse, Gastroesophageal reflux, Compulsive behaviors, Spina bifida occulta, Short statu...	ORPHA:904
Neutral Lipid Storage Myopathy	Short stature, Obesity, Pineal cyst	ORPHA:98908
Craniosynostosis 4	Ectopic posterior pituitary	OMIM:600775
Split Cord Malformation	Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele	ORPHA:573278
Roberts-Sc Phocomelia Syndrome	Microcephaly, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Frontal encephalocele,...	OMIM:268300
Junctional Epidermolysis Bullosa With Pyloric Atresia	Congenital pyloric atresia, Intestinal atresia	ORPHA:79403
Progeroid Short Stature With Pigmented Nevi	Allergic rhinitis, Allergic conjunctivitis, Sensorineural hearing impairment, Aortic valve stenos...	OMIM:176690
Epidermolysis Bullosa Simplex With Pyloric Atresia	Congenital pyloric atresia	ORPHA:158684
Pallister-Killian Syndrome	Anal stenosis, Rhizomelia, Intestinal malrotation, Supernumerary nipple, Mesomelic/rhizomelic lim...	OMIM:601803
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric ulcer, Gastric hypertrophy	OMIM:161700

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ulk4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ulk4.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Deletion of Schizophrenia Susceptibility Gene Ulk4 Leads to Abnormal Cognitive Behaviors via Akt-GSK-3 Signaling Pathway in Mice.	Schizophrenia bulletin (June 2022)	Ulk4^{tm1c(KOMP)Wtsi}	35522199
Ulk4, a Newly Discovered Susceptibility Gene for Schizophrenia, Regulates Corticogenesis in Mice.	Frontiers in cell and developmental biology (June 2021)	Ulk4^{tm1a(KOMP)Wtsi}	PMC8255617
Ulk4 regulates GABAergic signaling and anxiety-related behavior.	Translational psychiatry (February 2018)	Ulk4^{tm1a(KOMP)Wtsi}	PMC5804027
Ulk4 deficiency leads to hypomyelination in mice.	Glia (October 2017)	Ulk4^{tm1a(KOMP)Wtsi}	29034508
Ulk4 Is Essential for Ciliogenesis and CSF Flow.	The Journal of neuroscience : the official journal of the Society for Neuroscience (July 2016)	Ulk4^{tm1a(KOMP)Wtsi}	27445138
Recurrent deletions of ULK4 in schizophrenia: a gene crucial for neuritogenesis and neuronal motility.	Journal of cell science (November 2013)	Ulk4^{tm1a(KOMP)Wtsi}	24284070

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ulk4^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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