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Gene: Dnaaf2 MGI:1923566

Gene Summary

Name:

dynein, axonemal assembly factor 2

Synonyms:

kintoun, 1110034A24Rik, Ktu, 2810020C19Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal sleep behavior	Dnaaf2^{tm1.1(KOMP)Vlcg}	HET	Early adult	8.83×10^-05
embryonic lethality prior to organogenesis	Dnaaf2^{tm1.1(KOMP)Vlcg}	HOM	E9.5	0.00
increased startle reflex	Dnaaf2^{tm1.1(KOMP)Vlcg}	HET	Early adult	8.01×10^-05
preweaning lethality, complete penetrance	Dnaaf2^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Section images	heterozygote	100% (2 of 2)
Brainstem	Section images	heterozygote	100% (2 of 2)
Cartilage tissue	Section images	heterozygote	100% (2 of 2)
Epididymis	Section images	heterozygote	50% (1 of 2)
Hippocampus	Section images	heterozygote	0.0% (0 of 2)
Kidney	Section images	heterozygote	100% (2 of 2)
Lung	Section images	heterozygote	100% (2 of 2)
Oviduct	Section images	heterozygote	50% (1 of 2)
Pancreas	Section images	heterozygote	100% (2 of 2)
Pituitary gland	Section images	heterozygote	50% (1 of 2)
Spinal cord	Section images	heterozygote	100% (2 of 2)
Submandibular gland	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Thalamus	Section images	heterozygote	50% (1 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
Vesicular gland	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Embryo	N/A	heterozygote	100% (2 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Dorsal root ganglion	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Footplate	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forelimb	N/A	heterozygote	0.0% (0 of 2)
Fronto-nasal process	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	heterozygote	0.0% (0 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Nose	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail	N/A	heterozygote	0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.67% (4 of 598)
aorta	0.17% (1 of 598)
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
epididymis	14.29% (21 of 147)
esophagus	1.66% (7 of 422)
eye	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
midbrain	0.0%
olfactory lobe	0.33% (2 of 598)
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
submandibular gland	1.38% (2 of 145)
testis	1% (6 of 598)
thalamus	0.0%
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
urinary bladder	0.0%
uterus	0.33% (2 of 598)
vascular system	0.0%
vesicular gland	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	1.17% (6 of 511)
dorsal root ganglion	1.67% (1 of 60)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
eye	0.2% (1 of 511)
footplate	0.2% (1 of 511)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
fronto-nasal process	1.64% (1 of 61)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
heart	0.2% (1 of 511)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
liver	0.2% (1 of 506)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
midbrain	0.2% (1 of 511)
nose	1.28% (1 of 78)
oral cavity	0.2% (1 of 506)
skin	0.2% (1 of 511)
spinal cord	1.39% (1 of 72)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)

2 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

View images

Electroretinography 2

Rod and cone PDF

4 Images

View images

Human diseases caused by Dnaaf2 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 Dnaaf2 (2 diseases)
Human diseases predicted to be associated with Dnaaf2 (736 diseases)

The table below shows human diseases associated to Dnaaf2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ciliary Dyskinesia, Primary, 10		Recurrent sinusitis, Chronic sinusitis, Situs inversus totalis, Abnormal respiratory motile ciliu...	OMIM:612518
Primary Ciliary Dyskinesia		Asplenia, Ventriculomegaly, Bronchiectasis, Productive cough, Airway obstruction, Wheezing, Doubl...	ORPHA:244

The table below shows human diseases predicted to be associated to Dnaaf2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ciliary Dyskinesia, Primary, 18	Rhinitis, Abdominal situs ambiguus, Decreased nasal nitric oxide, Respiratory insufficiency due t...	OMIM:614874
Ciliary Dyskinesia, Primary, 20	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis...	OMIM:615067
Ciliary Dyskinesia, Primary, 13	Bronchiectasis, Immotile cilia, Absent inner dynein arms, Recurrent sinusitis, Situs inversus tot...	OMIM:613193
Ciliary Dyskinesia, Primary, 40	Atrioventricular canal defect, Congenitally corrected transposition of the great arteries, Decrea...	OMIM:618300
Ciliary Dyskinesia, Primary, 14	Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein a...	OMIM:613807
Ciliary Dyskinesia, Primary, 7	Decreased nasal nitric oxide, Bronchiectasis, Chronic rhinitis, Recurrent pneumonia, Abnormal cil...	OMIM:611884
Ciliary Dyskinesia, Primary, 28	Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv...	OMIM:615505
Ciliary Dyskinesia, Primary, 30	Respiratory insufficiency, Decreased nasal nitric oxide, Ventricular septal defect, Bronchiectasi...	OMIM:616037
Ciliary Dyskinesia, Primary, 17	Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Situs inversus totalis, Cough, Dextrocardia,...	OMIM:614679
Ciliary Dyskinesia, Primary, 32	Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Absent respiratory ciliary axoneme ...	OMIM:616481
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Situs inversus to...	OMIM:614017
Ciliary Dyskinesia, Primary, 12	Decreased nasal nitric oxide, Bronchiectasis, Short stature, Chronic pulmonary obstruction, Chron...	OMIM:612650
Ciliary Dyskinesia, Primary, 9	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chronic sinusitis, Chronic rhi...	OMIM:612444
Ciliary Dyskinesia, Primary, 26	Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv...	OMIM:615500
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus, Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhin...	OMIM:618699
Ciliary Dyskinesia, Primary, 38	Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Absent ...	OMIM:618063
Ciliary Dyskinesia, Primary, 22	Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv...	OMIM:615444
Ciliary Dyskinesia, Primary, 23	Productive cough, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, R...	OMIM:615451
Ciliary Dyskinesia, Primary, 24	Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu...	OMIM:615481
Ciliary Dyskinesia, Primary, 2	Bronchiectasis, Immotile cilia, Absent inner and outer dynein arms, Respiratory distress, Nasal p...	OMIM:606763
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Decreased nasal nitric oxide, Chronic sinusitis, Situs inversus totalis, Cough, Dextrocardia, Abd...	OMIM:619607
Ciliary Dyskinesia, Primary, 10	Recurrent sinusitis, Chronic sinusitis, Situs inversus totalis, Abnormal respiratory motile ciliu...	OMIM:612518
Ciliary Dyskinesia, Primary, 3	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Situs inversus totalis, Neonat...	OMIM:608644
Ciliary Dyskinesia, Primary, 19	Rhinitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Immotile ...	OMIM:614935
Ciliary Dyskinesia, Primary, 25	Gastroesophageal reflux, Bronchiectasis, Productive cough, Immotile cilia, Polysplenia, Recurrent...	OMIM:615482
Ciliary Dyskinesia, Primary, 15	Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, Chronic sinusitis, Na...	OMIM:613808
Ciliary Dyskinesia, Primary, 27	Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv...	OMIM:615504
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Double outlet right ventricle, Atrioventricular canal defect, Transposition of the grea...	OMIM:605376
Heterotaxy, Visceral, 6, Autosomal	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Transposition of the gre...	OMIM:614779
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Absent central microtubular pair morpho...	OMIM:620032
Ciliary Dyskinesia, Primary, 35	Decreased nasal nitric oxide, Abdominal situs ambiguus, Bronchiectasis, Productive cough, Chronic...	OMIM:617092
Ciliary Dyskinesia, Primary, 5	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis...	OMIM:608647
Ciliary Dyskinesia, Primary, 1	Asplenia, Bronchiectasis, Immotile cilia, Communicating hydrocephalus, Chronic sinusitis, Nasal p...	OMIM:244400
Ciliary Dyskinesia, Primary, 36, X-Linked	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Situs inversus totalis, Cough,...	OMIM:300991
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Primary Ciliary Dyskinesia	Asplenia, Ventriculomegaly, Bronchiectasis, Productive cough, Airway obstruction, Wheezing, Doubl...	ORPHA:244
Heterotaxy, Visceral, 1, X-Linked	Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Right atrial ...	OMIM:306955
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect	OMIM:601322
Ciliary Dyskinesia, Primary, 11	Decreased nasal nitric oxide, Bronchiectasis, Short stature, Immotile cilia, Recurrent sinusitis,...	OMIM:612649
Dextrocardia	Pancreatic hypoplasia, Abnormality of abdominal situs, Hydrocephalus, Intestinal malrotation, Mec...	ORPHA:1666
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Spinal dysraphism, Encephalocele, Ventricular septal defect, Short stature, Anenceph...	ORPHA:1908
Heterotaxy, Visceral, 8, Autosomal	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec...	OMIM:617205
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Ciliary Dyskinesia, Primary, 37	Bronchiectasis, Chronic rhinitis, Rhinorrhea, Situs inversus totalis, Dextrocardia, Wheezing	OMIM:617577
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Ectopic anus, Short stature, Hydrocephalus, Reduced forced vital capacity, Spin...	OMIM:613686
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
Laterality Defects, Autosomal Dominant	Asplenia, Heterotaxy, Situs inversus totalis	OMIM:601086
Colonic Atresia	Peptic ulcer, Duodenal stenosis, Colonic atresia, Abnormality of mesentery morphology, Abdominal ...	ORPHA:1198
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Isomerism, Esophageal atresia, Hydrocephalus, Anal atresia, Trache...	OMIM:314390
Right Atrial Isomerism	Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr...	OMIM:208530
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Situs inversus totalis, Dextrocardia	OMIM:618948
Chudley-Mccullough Syndrome	Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly, Dysplastic corpus callosum	OMIM:604213
Ciliary Dyskinesia, Primary, 6	Recurrent sinusitis, Abnormal ciliary motility, Sinusitis, Abnormal respiratory motile cilium mor...	OMIM:610852
Ciliary Dyskinesia, Primary, 34	Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beating frequency, Recu...	OMIM:617091
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Decreased nasal nitric oxide, Bronchiectasis, Rhinorrhea, Cough, D...	OMIM:618254
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Rhizomelia, Agenesis of corpus callosum	OMIM:166990
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Mirror Movements 3	Situs inversus totalis	OMIM:616059
Hypoglossia With Situs Inversus	Asplenia, High palate, Polysplenia, Respiratory distress, Situs inversus totalis, Microglossia, U...	OMIM:612776
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Respiratory distress, Tracheomalacia, Holoprosencephaly, Situs inv...	OMIM:202650
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Nephronophthisis 16	Periportal fibrosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Cholestasis, Aortic val...	OMIM:615382
Nephronophthisis 14	Situs inversus totalis	OMIM:614844
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Absent inner and outer dynein arms, Bronchiectasis, Chronic rhinitis	OMIM:618801
Fanconi Anemia, Complementation Group R	Growth delay, Hydrocephalus, Anal atresia	OMIM:617244
Thiamine-Responsive Megaloblastic Anemia Syndrome	Gastroesophageal reflux, Ventricular septal defect, Short stature, Atrial septal defect, Situs in...	OMIM:249270
Lissencephaly 4	Short stature, Growth delay, Agenesis of corpus callosum, Colpocephaly	OMIM:614019
Bardet-Biedl Syndrome 8	Situs inversus totalis	OMIM:615985
Ciliary Dyskinesia With Defective Radial Spokes	Immotile cilia, Absent respiratory ciliary axoneme radial spokes, Abnormal respiratory system phy...	OMIM:242670
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Asplenia, Atrioventricular canal defect, Double outlet right ventricle, A...	OMIM:270100
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Thoraco-Abdominal Enteric Duplication	Respiratory insufficiency, Meningocele, Duodenal stenosis, Intestinal malrotation, Dextrocardia, ...	ORPHA:1759
Joubert Syndrome	Encephalocele, Episodic tachypnea, Aganglionic megacolon, Hydrocephalus, Apnea, Abnormal pattern ...	ORPHA:475
Developmental And Epileptic Encephalopathy 102	Gastroesophageal reflux, Situs inversus totalis, Atrial septal defect, Hepatomegaly	OMIM:619881
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Asplenia, Ventricular septal defect, Cleft palate, Abdominal situs...	OMIM:619123
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Partial atrioventricular canal defect, Decreased nasal nitric oxide, Polysplenia, Chronic sinusit...	OMIM:619608
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Holoprosencephaly, Situs inversus totalis, Microglossia, Agenesis of corpus...	ORPHA:990
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Meckel Syndrome, Type 7	Pancreatic cysts, Biliary cirrhosis, Choroid plexus cyst, Atrial septal defect, Hepatosplenomegal...	OMIM:267010
Heterotaxy, Visceral, 7, Autosomal	Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ...	OMIM:616749
Ciliary Dyskinesia, Primary, 46	Bronchiectasis, Recurrent sinusitis, Reduced forced vital capacity, Recurrent pneumonia, Reduced ...	OMIM:619436
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Abnormal respiratory motile cilium morphology, Ciliary dyskinesia	OMIM:215520
Masa Syndrome	Short stature, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:303350
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough	OMIM:615434
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Hepatic fibrosis, Truncus arteriosus, Malformation of the hepatic ductal plate, Hypertr...	OMIM:615415
Ciliary Dyskinesia, Primary, 21	Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re...	OMIM:615294
Epilepsy, Pyridoxine-Dependent	Neonatal respiratory distress, Hydrocephalus	OMIM:266100
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Biliary cirrhosis, Malformation of the hepatic ductal plate, Hepatomegaly, Hyperechogen...	OMIM:208540
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Congenital Hydrocephalus	Abnormal heart morphology, Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Familial Visceral Myopathy	Cleft palate, Abdominal situs inversus, Aganglionic megacolon	ORPHA:2604
Ciliary Dyskinesia, Primary, 29	Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis	OMIM:615872
Marfanoid Habitus With Situs Inversus	Mitral valve prolapse, Situs inversus totalis, Obstructive sleep apnea, Pulmonic stenosis	OMIM:609008
1Q21.1 Microduplication Syndrome	Gastroesophageal reflux, Hydrocephalus, Tetralogy of Fallot	ORPHA:250994
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Abnormal respiratory motile cilium morphology, Ciliary dyskinesia	OMIM:225050
Short Stature-Wormian Bones-Dextrocardia Syndrome	Dextrocardia, High palate, Anal atresia, Short stature	ORPHA:2863
Edinburgh Malformation Syndrome	Jaundice, Hydrocephalus	OMIM:129850
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Hepatomegaly, Colpocephaly	OMIM:614870
Marden-Walker Syndrome	Ventricular septal defect, Pyloric stenosis, Bifid uvula, Submucous cleft hard palate, Hydrocepha...	ORPHA:2461
Biemond Syndrome Ii	Hydrocephalus, Short stature	OMIM:210350
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Holoprosencephaly 5	High palate, Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosence...	OMIM:609637
Ciliary Dyskinesia, Primary, 33	Bronchiectasis, Chronic rhinitis, Recurrent pneumonia, Cough, Ciliary dyskinesia	OMIM:616726
Aicardi-Goutieres Syndrome 4	Respiratory insufficiency, Ventriculomegaly, Hydrocephalus, Hepatosplenomegaly, CSF lymphocytic p...	OMIM:610333
Nephronophthisis 2	Respiratory insufficiency, Situs inversus totalis, Respiratory failure	OMIM:602088
Band Heterotopia	Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Dextrocardia	OMIM:606217
Marden-Walker Syndrome	High palate, Pyloric stenosis, Agenesis of corpus callosum, Dandy-Walker malformation, Dextrocard...	OMIM:248700
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Hallermann-Streiff Syndrome	Respiratory insufficiency, High, narrow palate, Tracheomalacia, Proportionate short stature, Abdo...	ORPHA:2108
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Apnea, Abnormal pattern of respiration, Dext...	ORPHA:220493
Wolf-Hirschhorn Syndrome	Abnormal cardiac septum morphology, Abnormality of the gallbladder, Atrial septal defect, Intraut...	ORPHA:280
Narcolepsy 3	Narcolepsy	OMIM:609039
Atrial Septal Defect 2	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul...	OMIM:607941
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Jaundice, Situs inversus totalis, Dextrocardia, Hepatomegaly, Hepatic cysts	OMIM:613095
Vacterl Association With Hydrocephalus	Respiratory insufficiency, Aqueductal stenosis, Hydrocephalus, Anal atresia, Abnormal heart morph...	OMIM:276950
Progressive Non-Infectious Anterior Vertebral Fusion	Abdominal situs inversus	ORPHA:2062
Czeizel-Losonci Syndrome	High palate, Myelomeningocele, Spina bifida, Hydrocephalus, Tracheoesophageal fistula, Spina bifi...	ORPHA:2437
Renpenning Syndrome	Anal atresia, Severe short stature, Growth delay, Cleft palate, Heterotaxy, High, narrow palate	ORPHA:3242
Primary Pulmonary Hypoplasia	Pneumothorax, Abnormal breath sound, Asthma, Secundum atrial septal defect, Hypoxemia, Apnea, Res...	ORPHA:2257
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Congenital Toxoplasmosis	Ventriculomegaly, Jaundice, Hydrocephalus, Hepatomegaly, Cardiomegaly, Intrauterine growth retard...	ORPHA:858
Partial Atrioventricular Septal Defect	Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Exe...	ORPHA:1330
Bardet-Biedl Syndrome 17	Situs inversus totalis, Dextrocardia	OMIM:615994
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Hydrocephalus, Anal atresia, Median cleft lip and palat...	OMIM:264480
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short stature, Mitral valve prolapse, Hydrocephalus, Azoospermia, High, narrow palate	ORPHA:2183
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum	OMIM:619302
Retinitis Pigmentosa 6	Immotile cilia	OMIM:312612
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Hepatomegaly	OMIM:300884
Double Outlet Right Ventricle	Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Short stature, Subm...	ORPHA:3426
Developmental And Epileptic Encephalopathy 49	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:617281
Gómez-López-Hernández Syndrome	Hydrocephalus, Short stature	ORPHA:1532
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Proximal 16P11.2 Microdeletion Syndrome	Gastroesophageal reflux, Ventriculomegaly, Pyloric stenosis, Abnormal aortic valve morphology, At...	ORPHA:261197
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Corpus Callosum, Partial Agenesis Of, X-Linked	Partial agenesis of the corpus callosum, Aganglionic megacolon, Hydrocephalus	OMIM:304100
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Hydrolethalus Syndrome 2	Ventriculomegaly, Anencephaly, Hydrocephalus, Cleft palate, Agenesis of corpus callosum	OMIM:614120
Omphalocele-Cleft Palate Syndrome, Lethal	Cleft palate, Bifid uvula, Hydrocephalus	OMIM:258320
Heterotaxy, Visceral, 12, Autosomal	Patent foramen ovale, Double outlet right ventricle, Congenitally corrected transposition of the ...	OMIM:619702
Fried Syndrome	Hydrocephalus, High palate	ORPHA:85335
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia, Double outlet right ventricle, High palate, Unbalanced atrioventricular canal defect, I...	OMIM:619657
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Ciliary dyskinesia, Short stature	ORPHA:1882
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Growth delay, Abnormal lateral ventricle morphology, Intrauterine growth retardation	ORPHA:488635
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Ventricular septal defect, Short stature, Pyloric stenosis, Hydrocephalus, Agen...	OMIM:218350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect, Lateral ventricle dilatation, Respiratory insufficiency due to muscle ...	OMIM:616816
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Mosaic Trisomy 9	Asplenia, Abnormal liver lobulation, High palate, Ventriculomegaly, Ventricular septal defect, Sp...	ORPHA:99776
Meckel Syndrome	Pancreatic cysts, Asplenia, Aplasia/Hypoplasia of the tongue, Encephalocele, Anencephaly, Hydroce...	ORPHA:564
Narcolepsy 1	Narcolepsy	OMIM:161400
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Ventricular septal defect, Abnormal cardiac septum morphology	ORPHA:83473
Coach Syndrome 2	Hepatic fibrosis, Apneic episodes in infancy, Hydrocephalus, Portal fibrosis, Agenesis of corpus ...	OMIM:619111
Developmental And Epileptic Encephalopathy 66	Dextrocardia, Ventricular septal defect, Atrial septal defect	OMIM:618067
Pettigrew Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Biemond Syndrome Type 2	Delayed puberty, Hydrocephalus, Short stature	ORPHA:141333
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Episodic tachypnea, Apneic episodes in infancy, Hydrocephalus, Meckel diverticu...	ORPHA:163961
Ritscher-Schinzel Syndrome 1	Double outlet right ventricle, Ventricular septal defect, Hydrocephalus, Anal atresia, Atrial sep...	OMIM:220210
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Short Rib-Polydactyly Syndrome	Hepatic fibrosis, Respiratory failure, Abnormality of the liver, Gastrointestinal atresia, Intest...	ORPHA:1505
Acalvaria	Spina bifida, Cleft palate, Holoprosencephaly, Hydrocephalus	ORPHA:945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Respiratory insufficiency, Ventriculomegaly, Hydrocephalus, Left ventricular hypertrophy, Dandy-W...	OMIM:613153
Johanson-Blizzard Syndrome	Abnormality of the pancreas, Abnormal cardiac septum morphology, Short stature, Malabsorption, An...	ORPHA:2315
Chromosome 6Q24-Q25 Deletion Syndrome	High palate, Lateral ventricle dilatation, Right ventricular dilatation, Mitral valve prolapse, H...	OMIM:612863
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Ellis Van Creveld Syndrome	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Emphysema, Situs ...	ORPHA:289
Heterotaxy, Visceral, 4, Autosomal	Midline liver, Atrioventricular canal defect, Ventricular septal defect, Transposition of the gre...	OMIM:613751
Global Developmental Delay With Or Without Impaired Intellectual Development	Short stature, Atrial septal defect, Ventricular septal defect, Lateral ventricle dilatation	OMIM:618330
3C Syndrome	Gastroesophageal reflux, Atrioventricular canal defect, Ventriculomegaly, Ectopic anus, Ventricul...	ORPHA:7
Biliary, Renal, Neurologic, And Skeletal Syndrome	Atrioventricular canal defect, Biliary cirrhosis, Unbalanced atrioventricular canal defect, Later...	OMIM:619534
Congenital Muscular Dystrophy, Fukuyama Type	Dilated cardiomyopathy, Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation	ORPHA:272
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Hydrocephalus	OMIM:300886
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly	ORPHA:250972
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Infantile Sialic Acid Storage Disease	High palate, Hydrocephalus, Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:269920
Meckel Syndrome, Type 4	Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ...	OMIM:611134
Thanatophoric Dysplasia Type 2	Respiratory insufficiency, Encephalocele, Ventriculomegaly, Short stature, Hydrocephalus, Atrial ...	ORPHA:93274
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holopros...	ORPHA:77298
Pyruvate Dehydrogenase E1-Alpha Deficiency	Gastroesophageal reflux, Ventriculomegaly, Recurrent aspiration pneumonia, Lateral ventricle dila...	ORPHA:79243
Frontal Encephalocele	Spina bifida, Hydrocephalus, Encephalocele	ORPHA:1931
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly, Ventricular septal defect	OMIM:602501
1Q44 Microdeletion Syndrome	High palate, Ventriculomegaly, Abnormal cardiac septum morphology, Short stature, Hydrocephalus, ...	ORPHA:238769
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Ventriculomegaly, Ventricular septal defect, Short stature, Hydrocephalus, Chol...	OMIM:615630
Meacham Syndrome	Conotruncal defect, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart, Anom...	ORPHA:3097
Poland Syndrome	Dextrocardia	OMIM:173800
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Craniotelencephalic Dysplasia	Arrhinencephaly, Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Narcolepsy 7	Narcolepsy	OMIM:614250
8P Inverted Duplication/Deletion Syndrome	Aplasia/Hypoplasia of the gallbladder, Dandy-Walker malformation, Dextrocardia, Abnormal heart mo...	ORPHA:96092
Triploidy	Meningocele, Abnormality of the pancreas, Abnormal cardiac septum morphology, Abnormality of the ...	ORPHA:3376
Temple Syndrome	Short stature, Bifid uvula, Hydrocephalus, Postnatal growth retardation	ORPHA:254516
Greig Cephalopolysyndactyly Syndrome	Abnormal heart morphology, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:175700
Congenitally Corrected Transposition Of The Great Arteries	Abnormal left ventricular outflow tract morphology, Ambiguous atrioventricular connection, Double...	ORPHA:216694
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Short stature	ORPHA:1516
Thanatophoric Dysplasia	Respiratory insufficiency, Ventriculomegaly, Hydrocephalus, Atrial septal defect, Disproportionat...	ORPHA:2655
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Macroglossia, Cardiomyopathy	OMIM:613155
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve, Hydrocephalus	ORPHA:397951
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Ring Chromosome 7 Syndrome	Ventriculomegaly, Short stature, Bifid uvula, Holoprosencephaly, Situs inversus totalis, Severe i...	ORPHA:1449
Hemiparkinsonism-Hemiatrophy Syndrome	Neonatal asphyxia, Lateral ventricle dilatation	ORPHA:306669
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia, High palate, Agenesis of corpus callosum	OMIM:618929
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Martsolf Syndrome 2	Short stature, Lateral ventricle dilatation	OMIM:619420
Central Precocious Puberty	Proportionate short stature, Hydrocephalus	ORPHA:759
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:618577
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Infl...	OMIM:614576
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Methylmalonic Aciduria And Homocystinuria, Cblf Type	High palate, Short stature, Glossitis, Atrial septal defect, Tracheoesophageal fistula, Dextrocar...	OMIM:277380
Dandy-Walker Malformation With Postaxial Polydactyly	Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Total Anomalous Pulmonary Venous Return 1	Pulmonary arterial hypertension, Dextrocardia, Total anomalous pulmonary venous return	OMIM:106700
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Knobloch Syndrome	Occipital encephalocele, Pyloric stenosis, Hydrocephalus, Dextrocardia	ORPHA:1571
Vitamin K Antagonist Embryofetopathy	Respiratory insufficiency, Myelomeningocele, Hydrocephalus, Macroglossia, Intrauterine growth ret...	ORPHA:1914
Chiari Malformation Type Ii	Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Dysphagia, Inspiratory strido...	OMIM:207950
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele	OMIM:182940
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis, Short stature	ORPHA:2701
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Meckel Syndrome, Type 3	Hepatic fibrosis, Hydrocephalus, Malformation of the hepatic ductal plate, Bile duct proliferatio...	OMIM:607361
Pagod Syndrome	Meningocele, Encephalocele, Short stature, Spina bifida, Hypoplastic left heart, Situs inversus t...	ORPHA:991
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Hydranencephaly, Cleft palate, Intrau...	OMIM:225790
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Lobulated tongue, Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation	OMIM:613443
Mucopolysaccharidosis, Type Ii	Splenomegaly, Tracheobronchomalacia, Short stature, Asthma, Hydrocephalus, Abnormal heart valve m...	OMIM:309900
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:2182
Intellectual Developmental Disorder, Autosomal Dominant 35	Pyloric stenosis, Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation	OMIM:616355
Bresek Syndrome	Aganglionic megacolon, Hydrocephalus, Growth delay, Cleft palate, Neonatal death, Intrauterine gr...	ORPHA:85284
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Ventricular septal defect, Esophageal atresia, Hydrocephalus, Tracheoesophageal...	OMIM:300514
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Endocardial fibroelastosis	OMIM:600559
Joubert Syndrome 3	Neonatal breathing dysregulation, Lateral ventricle dilatation, Episodic tachypnea, Atrial septal...	OMIM:608629
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, High palate, Short stature	OMIM:300558
Emanuel Syndrome	Gastroesophageal reflux, High palate, Ventriculomegaly, Ectopic anus, Truncus arteriosus, Ventric...	ORPHA:96170
Nasu-Hakola Disease	Functional abnormality of the gastrointestinal tract, Hydrocephalus, Ventriculomegaly	ORPHA:2770
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:109120
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Short stature, Hydrocephalus, Dandy-Walker malformation, Atrial septal defect, Aortic valve steno...	ORPHA:459061
D-2-Hydroxyglutaric Aciduria 1	Lateral ventricle dilatation, Apnea, Subependymal cysts, Inspiratory stridor, Cardiomyopathy	OMIM:600721
Scimitar Syndrome	Pulmonary arterial hypertension, Double outlet right ventricle, Mitral atresia, Pneumothorax, Tru...	ORPHA:185
Axial Mesodermal Dysplasia Spectrum	Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma...	ORPHA:1834
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Hb Bart'S Hydrops Fetalis	Pericarditis, Hydrocephalus, Splenomegaly, Hepatomegaly	ORPHA:163596
Aase-Smith Syndrome I	Cleft palate, Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation	OMIM:147800
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Ventricular septal defect, Lateral ventricle dilatation, Apneic episode...	ORPHA:3078
Emanuel Syndrome	Gastroesophageal reflux, High palate, Ventriculomegaly, Truncus arteriosus, Ventricular septal de...	OMIM:609029
Glutamine Deficiency, Congenital	Lateral ventricle dilatation, Apnea, Subependymal cysts, Neonatal respiratory distress, Decreased...	OMIM:610015
Pontocerebellar Hypoplasia, Type 1A	Respiratory insufficiency, Intercostal muscle weakness, Lateral ventricle dilatation, Dysphagia	OMIM:607596
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Respiratory insufficiency, Lateral ventricle dilatation	OMIM:617668
Hydrocephalus, Congenital, X-Linked	Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	OMIM:307000
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery fistula, Short sta...	OMIM:614294
Meacham Syndrome	Neonatal death, Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, B...	OMIM:608978
Metatropic Dysplasia	Cleft palate, Hydrocephalus, Severe short stature	ORPHA:2635
Melanosis, Neurocutaneous	Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation	OMIM:249400
Griscelli Syndrome	Encephalocele, Short stature, Hepatitis, Pyloric stenosis, Jaundice, Hydrocephalus, Hepatomegaly,...	ORPHA:381
Alexander Disease Type I	Hydrocephalus, Dysphagia	ORPHA:363717
Myopathy, Centronuclear, X-Linked	High palate, Pyloric stenosis, Hydrocephalus, Neonatal respiratory distress, Respiratory failure ...	OMIM:310400
Hydrolethalus	Arrhinencephaly, Bifid uvula, Submucous cleft hard palate, Hydrocephalus, Anencephaly, Tracheal a...	ORPHA:2189
Isolated Cleft Lip	Velopharyngeal insufficiency, Situs inversus totalis	ORPHA:199302
Alg2-Cdg	Hepatomegaly, Lateral ventricle dilatation	ORPHA:79326
Pallister-Hall-Like Syndrome	Short stature, Hydrocephalus, Microglossia, Cleft palate, Occipital encephalocele	OMIM:241800
Halperin-Birk Syndrome	Gastroesophageal reflux, High palate, Ventriculomegaly, Aspiration, Perimembranous ventricular se...	OMIM:618651
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Gastroesophageal reflux, High palate, Ventriculomegaly, Short stature, Hydrocephalus, Intrauterin...	OMIM:619833
Radial Aplasia, X-Linked	Hydrocephalus, Anal atresia	OMIM:312190
Temple Syndrome	High palate, Short stature, Bifid uvula, Hydrocephalus, Cleft palate, Intrauterine growth retarda...	OMIM:616222
Nephronophthisis 18	Hydrocephalus, Cholestasis, Portal fibrosis	OMIM:615862
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Tracheobronchomalacia, Ventricular septal defect, Lateral ventricle dil...	OMIM:617751
Diabetic Embryopathy	Abnormality of the pancreas, Spinal dysraphism, Ventricular septal defect, Hydrocephalus, Cleft p...	ORPHA:1926
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Bifid uvula, Hydrocephalus, Hypertrophic cardiomyopathy, Protruding to...	OMIM:612938
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus, Macroglossia, Occipital encephalocele,...	ORPHA:370959
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, High palate	OMIM:613776
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Weiss-Kruszka Syndrome	Ventricular septal defect, Ventriculomegaly, Bicuspid aortic valve, Left ventricular hypertrophy,...	OMIM:618619
Distal Trisomy 5Q	Dextrocardia, Ventricular septal defect, Short stature, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Optic Pathway Glioma	Hydrocephalus, Growth delay	ORPHA:2086
Pontocerebellar Hypoplasia, Type 13	High palate, Lateral ventricle dilatation, Volvulus, Asthma, Pleural effusion, Sleep apnea, Dandy...	OMIM:618606
Arnold-Chiari Malformation Type Ii	Meningocele, Myelomeningocele, Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Apnea, Parti...	ORPHA:1136
Lowry-Maclean Syndrome	Midgut malrotation, Atrioventricular canal defect, Abnormality of the abdominal organs, Pyloric s...	ORPHA:2409
Genitopalatocardiac Syndrome	Abnormal cardiac septum morphology, Abnormality of the gallbladder, Hydrocephalus, Abnormality of...	ORPHA:2075
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus, High, narrow palate	ORPHA:2181
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, High palate, Ventriculomegaly, Short stature	OMIM:609757
Thakker-Donnai Syndrome	Ventricular septal defect, Communicating hydrocephalus, Anal atresia, Tracheoesophageal fistula, ...	ORPHA:1780
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Rhombencephalosynapsis	Ventriculomegaly, Esophageal atresia, Aganglionic megacolon, Hydrocephalus, Anal atresia, Tracheo...	ORPHA:59315
Hec Syndrome	Respiratory insufficiency, Cardiomyopathy, Communicating hydrocephalus, Endocardial fibroelastosis	ORPHA:2119
Pseudo-Torch Syndrome 2	Respiratory insufficiency, Ventriculomegaly, Lateral ventricle dilatation, Secundum atrial septal...	OMIM:617397
Mucopolysaccharidosis, Type Vii	Short stature, Hydrocephalus, Abnormal heart valve morphology, Macroglossia, Airway obstruction, ...	OMIM:253220
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Cleft palate, Growth delay, Lateral ventricle dilatation	OMIM:615716
Bilateral Generalized Polymicrogyria	Gastroesophageal reflux, Short stature, Lateral ventricle dilatation, Growth delay, Oral-pharynge...	ORPHA:208447
L1 Syndrome	Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ventricle dilatation, Spi...	OMIM:618291
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Hydrocephalus, Conotruncal defect	OMIM:243440
Methylcobalamin Deficiency Type Cble	Abnormality of the liver, Ventriculomegaly, Hydrocephalus, Intrauterine growth retardation, Postn...	ORPHA:2169
Intellectual Developmental Disorder, Autosomal Dominant 36	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:616362
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Ventricular septal defect, Short stature, Lateral ventricle dilatation, Dextrotransp...	OMIM:619995
Focal Facial Dermal Dysplasia Type Iv	Cleft palate, Hydrocephalus	ORPHA:398189
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Patent foramen ovale, High palate, Ventricular septal defect, Short stature, Postnatal growth ret...	OMIM:620113
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly, Atrial septal defect, Ventricular septal defect	OMIM:603387
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Desmosterolosis	Ventriculomegaly, Bifid uvula, Submucous cleft hard palate, Hydrocephalus, Intestinal malrotation...	ORPHA:35107
Edinburgh Malformation Syndrome	Respiratory insufficiency, Hydrocephalus	ORPHA:1895
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Hydrocephalus, Intrauterine growth retardation, Short stature	OMIM:300863
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle d...	OMIM:618736
Congenital Total Pulmonary Venous Return Anomaly	Supracardiac total anomalous pulmonary venous connection, Hepatomegaly, Double outlet right ventr...	ORPHA:99125
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Communicating hydrocephalus, Short stature	ORPHA:1861
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Thoracoabdominal Syndrome	Anencephaly, Hydrocephalus, Ectopia cordis, Cleft palate, Transposition of the great arteries	OMIM:313850
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Respiratory insufficiency, Hydrocephalus	ORPHA:93262
Alg3-Cdg	Cardiomyopathy, Neural tube defect	ORPHA:79321
Trisomy 1Q	Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Anal atresia, Cleft palate, Agenesis ...	ORPHA:261344
Crouzon Syndrome	Respiratory insufficiency, Hydrocephalus, Narrow palate	ORPHA:207
Holoprosencephaly 14	Double outlet right ventricle, Aortic valve atresia, Aqueductal stenosis, Ventriculomegaly, Ventr...	OMIM:619895
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Peroxisome Biogenesis Disorder 12A (Zellweger)	Double outlet right ventricle, Short stature, Hydrocephalus, Atrial septal defect, Growth delay, ...	OMIM:614886
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:619955
Adams-Oliver Syndrome	Pulmonary arterial hypertension, Cirrhosis, Encephalocele, Hydrocephalus, Abnormal pulmonary valv...	ORPHA:974
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Fg Syndrome Type 1	Pulmonary arterial hypertension, Gastroesophageal reflux, High palate, Ventriculomegaly, Short st...	ORPHA:93932
Chromosome 6Pter-P24 Deletion Syndrome	Patent foramen ovale, High palate, Ventricular septal defect, Hydrocephalus, Anal atresia, Dandy-...	OMIM:612582
Renpenning Syndrome 1	High palate, Ventricular septal defect, Short stature, Anal atresia, Atrial septal defect, Situs ...	OMIM:309500
Fanconi Anemia, Complementation Group I	Patent foramen ovale, Ventricular septal defect, Short stature, Atrial septal defect, Intrauterin...	OMIM:609053
Neonatal Lupus Erythematosus	Abnormality of the liver, Hydrocephalus, Dilated cardiomyopathy, Cholestasis, Hepatomegaly, Abnor...	ORPHA:398124
Amelocerebrohypohidrotic Syndrome	Hydrocephalus, Short stature	ORPHA:1946
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Thanatophoric Dysplasia Type 1	Respiratory insufficiency, Ventriculomegaly, Hydrocephalus, Atrial septal defect, Lethal short-li...	ORPHA:1860
Cach Syndrome	Lateral ventricle dilatation, Pancreatitis, Hepatosplenomegaly, Growth delay, Dysphagia, Intraute...	ORPHA:135
Isotretinoin-Like Syndrome	Gastroesophageal reflux, Conotruncal defect, Bicuspid aortic valve, Hydrocephalus, Intrauterine g...	ORPHA:2306
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Apnea, Abnormal pattern of respiration, Clef...	ORPHA:220497
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Pulmonary arterial hypertension, Gastroesophageal reflux, Rhizomelia, Hydrocephalus, Respiratory ...	OMIM:616482
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Ventricular septal defect, Short stature, Hydrocephalus, Anal atresi...	OMIM:309801
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Ventriculomegaly, Hydrocephalus, Abnormal myocardium morphology, Hepatic steatosis, Hepatic calci...	ORPHA:228308
Polymicrogyria Due To Tubb2B Mutation	Agenesis of corpus callosum, Lateral ventricle dilatation	ORPHA:300573
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Tetrasomy 9P	Absent gallbladder, Pulmonary arterial hypertension, Biliary atresia, Patent foramen ovale, High ...	ORPHA:3310
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Short stature, Agenesis of corpus callosum, Hydrocephalus, Atrial septal defect...	OMIM:257300
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:615219
Thanatophoric Dysplasia, Type I	Hydrocephalus, Disproportionate short-limb short stature, Lethal short-limbed short stature, Neon...	OMIM:187600
Pentalogy Of Cantrell	Absent gallbladder, Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, Po...	ORPHA:1335
Whipple Disease	Respiratory insufficiency, Malabsorption, Hydrocephalus, Pericarditis, Cough, Gastrointestinal he...	ORPHA:3452
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi...	OMIM:618280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Respiratory insufficiency, Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Atrial septal de...	OMIM:253800
Joubert Syndrome 14	Meningocele, Encephalocele, Ventricular septal defect, Hydrocephalus, Growth delay, Cleft palate,...	OMIM:614424
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Microvesicular hepatic steatosis, Ileoileal intussusception, Villous atrophy, A...	OMIM:619377
B4Galt1-Cdg	Dandy-Walker malformation, Hydrocephalus, Splenomegaly, Hepatomegaly	ORPHA:79332
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Oxoglutaric Aciduria	Hydrocephalus, Abnormal salivary gland morphology, Short stature	ORPHA:31
Multiple Sulfatase Deficiency	Ventriculomegaly, Short stature, Hydrocephalus, Hepatomegaly, Increased CSF protein concentration...	OMIM:272200
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Disproportionate short-trunk short stature	OMIM:613330
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly, Ventricular septal defect	OMIM:219730
Trisomy 17P	High palate, Short stature, Hydrocephalus, Macroglossia, Hypoplastic left heart, Growth delay, Ao...	ORPHA:261290
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Intrauterine growth retardation, Lateral ventricle dilatation	ORPHA:284417
Mucopolysaccharidosis Type 1	Short stature, Malabsorption, Hydrocephalus, Abnormal heart valve morphology, Abnormal aortic val...	ORPHA:579
Cardiac Diverticulum	Endocarditis, Patent foramen ovale, Congenital defect of the pericardium, Ventricular septal defe...	ORPHA:1686
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida	ORPHA:63260
Craniosynostosis 6	Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle d...	OMIM:616602
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus	ORPHA:171839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Hydrocephaly-Low Insertion Umbilicus Syndrome	Anomalous pulmonary venous return, Communicating hydrocephalus, Tetralogy of Fallot	ORPHA:2184
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Hydrocephalus, Intrauterine growth retardation, Short stature	ORPHA:163966
Cole-Carpenter Syndrome 2	Short stature, Hydrocephalus, High palate, Postnatal growth retardation	OMIM:616294
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Alkuraya-Kucinskas Syndrome	High palate, Ventriculomegaly, Pericardial effusion, Hydrocephalus, Pleural effusion, Dandy-Walke...	OMIM:617822
Cutis Laxa, Autosomal Recessive, Type Iib	Gastroesophageal reflux, High palate, Hydrocephalus, Intrauterine growth retardation, Agenesis of...	OMIM:612940
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus, Abnormal heart morphology, Anal stenosis	OMIM:601499
Short-Rib Thoracic Dysplasia 12	Respiratory insufficiency, Lobulated tongue, Patent foramen ovale, Periportal fibrosis, Ventricul...	OMIM:269860
Achondroplasia	Rhizomelia, Central sleep apnea, Hydrocephalus, Hypoxemia, Disproportionate short stature, Restri...	ORPHA:15
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Johanson-Blizzard Syndrome	Colonic diverticula, Ventricular septal defect, Short stature, Malabsorption, Anal atresia, Atria...	OMIM:243800
Dyssegmental Dysplasia, Silverman-Handmaker Type	Respiratory insufficiency, Encephalocele, Hydrocephalus, Severe short stature, Abnormal heart mor...	ORPHA:1865
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Agenesis of corpus callosum, Respiratory insufficiency due to muscle weakness	OMIM:615249
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Narcolepsy, Head tremor, Resting tremor	ORPHA:314404
Carpenter Syndrome 2	High palate, Narrow palate, Transposition of the great arteries, Atrial septal defect, Situs inve...	OMIM:614976
Glutaric Acidemia I	Hydrocephalus, Hepatomegaly, Lateral ventricle dilatation	OMIM:231670
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Tracheal stenosis, Anal atresia, Agenesis of corpus callosum	ORPHA:3301
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, High palate	ORPHA:2180
X-Linked Intellectual Disability, Wilson Type	Growth delay, Lateral ventricle dilatation	ORPHA:85290
Pfeiffer Syndrome Type 2	High palate, Aqueductal stenosis, Hydrocephalus, Anal atresia, Tracheomalacia, Respiratory distre...	ORPHA:93259
Albers-Schönberg Osteopetrosis	Hydrocephalus, Short stature	ORPHA:53
Posterior Meningocele	Meningocele, Neural tube defect, Occipital meningocele, Hydromyelia, Hydrocephalus, Lipomyelomeni...	ORPHA:268810
Gracile Bone Dysplasia	Asplenia, Short stature, Ankyloglossia, Hydrocephalus, Hypoplastic spleen	OMIM:602361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal...	OMIM:613154
Stromme Syndrome	Jejunal atresia, Hydrocephalus, Intestinal malrotation, Accessory spleen, Stillbirth, Cleft palat...	OMIM:243605
Gaucher Disease, Type Iiic	Splenomegaly, Mitral stenosis, Hydrocephalus, Hepatomegaly, Cardiomegaly, Aortic valve calcificat...	OMIM:231005
Tenorio Syndrome	Gastroesophageal reflux, Ventriculomegaly, Hydrocephalus, Macroglossia, Apnea, Recurrent pneumonia	OMIM:616260
Apert Syndrome	Respiratory insufficiency, Narrow palate, Ventriculomegaly, Ectopic anus, Esophageal atresia, Bif...	ORPHA:87
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Respiratory insufficiency, Ventriculomegaly, Short stature, Mitral stenosis, Agenesis of corpus c...	OMIM:617260
Plasminogen Deficiency, Type I	Dandy-Walker malformation, Hydrocephalus, Duodenal ulcer, Ventriculomegaly	OMIM:217090
Tetrasomy 5P	Pulmonary arterial hypertension, High palate, Hydrocephalus, Respiratory distress, Postnatal grow...	ORPHA:3309
Congenital Sialidosis Type 2	Hydrocephalus, Hepatosplenomegaly, Protruding tongue, Abnormal heart morphology, Hepatomegaly	ORPHA:93400
Slc35A2-Cdg	Gastroesophageal reflux, Lateral ventricle dilatation, Short stature, Abnormal heart morphology, ...	ORPHA:356961
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation	OMIM:221770
Encephalocraniocutaneous Lipomatosis	Subvalvular aortic stenosis, Ventricular septal defect, Hydrocephalus, Dandy-Walker malformation,...	OMIM:613001
16P13.2 Microdeletion Syndrome	Gastroesophageal reflux, Dilated third ventricle, Ventriculomegaly, Short stature, Asthma, Hydroc...	ORPHA:500055
Spondyloepimetaphyseal Dysplasia, Krakow Type	High palate, Rhizomelia, Allergic rhinitis, Asthma, Hydrocephalus, Atrial septal defect, Annular ...	OMIM:618162
Intellectual Developmental Disorder, Autosomal Dominant 56	Gastroesophageal reflux, High palate, Lateral ventricle dilatation	OMIM:617854
Joubert Syndrome With Oculorenal Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Apnea, Tachypnea	ORPHA:2318
Limb Body Wall Complex	Abnormality of the liver, Ventricular septal defect, Encephalocele, Myelomeningocele, Spina bifid...	ORPHA:2369
Meckel Syndrome, Type 6	Absent gallbladder, Hepatic fibrosis, Anencephaly, Hydrocephalus, Bile duct proliferation, Hepati...	OMIM:612284
Malan Overgrowth Syndrome	High palate, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:420179
Holoprosencephaly 13, X-Linked	Gastroesophageal reflux, Patent foramen ovale, Double outlet right ventricle, Colpocephaly, Ventr...	OMIM:301043
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Hydrocephalus, Anteriorly placed anus, Abnormal heart morphology, Cleft pa...	OMIM:239300
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic arm shortening, Gastroesophageal reflux, Dilated third ventricle, Rhizomelic leg short...	ORPHA:397715
Catel-Manzke Syndrome	High palate, Ventricular septal defect, Bifid uvula, Dextrocardia, Intrauterine growth retardatio...	OMIM:616145
Mirage Syndrome	Gastroesophageal reflux, Esophageal stricture, Aspiration pneumonia, Achalasia, Short stature, Hy...	OMIM:617053
Walker-Warburg Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Bifid uvula, Submucous cleft hard p...	ORPHA:899
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Intestinal malrotation, Hydrocephalus, Ventriculomegaly, Choroid plexus cyst	OMIM:617866
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Hepatic calcification, Hepatomegaly, Neonatal respiratory distress, Agenesis of co...	ORPHA:157
Opitz-Kaveggia Syndrome	Narrow palate, Short stature, Pyloric stenosis, Hydrocephalus, Anal atresia, Intestinal malrotati...	OMIM:305450
Desmosterolosis	Ventriculomegaly, Rhizomelia, Hydrocephalus, Partial agenesis of the corpus callosum, Total anoma...	OMIM:602398
Muenke Syndrome	Hydrocephalus, High, narrow palate	ORPHA:53271
Diets-Jongmans Syndrome	Heterotaxy, Duodenal atresia, Ventricular septal defect, Short stature	OMIM:618846
Hurler Syndrome	Cardiomyopathy, Rhinitis, Short stature, Hydrocephalus, Abnormal heart valve morphology, Macroglo...	ORPHA:93473
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrocephalus, Tracheoesophageal fistula, Tracheomalacia, Agenesis of ...	ORPHA:268249
Distal Tetrasomy 15Q	High palate, Hydrocephalus, Atrial septal defect, Abnormal heart morphology, Intrauterine growth ...	ORPHA:314588
Lateral Meningocele Syndrome	Meningocele, High palate, Ventricular septal defect, Short stature, Bicuspid aortic valve, Hydroc...	OMIM:130720
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Dilated third ventricle, Ventricular septal defect, Lateral ventricle dilatation, High, narrow pa...	OMIM:619575
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Patent foramen ovale, High palate, Ventricular septal defect, Lateral ventricle dilatation, Bicus...	ORPHA:457279
Pelvis-Shoulder Dysplasia	Mesomelic/rhizomelic limb shortening, Short stature, Spina bifida, Hydrocephalus, Hydranencephaly...	ORPHA:2839
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Perineal fistula, Anal atresia, Rectovaginal fistula, Rectal atresia	ORPHA:3016
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Short stature, Lateral ventricle dilatation, Dysphagia	OMIM:619847
Icf Syndrome	Short stature, Malabsorption, Communicating hydrocephalus, Macroglossia, Protruding tongue	ORPHA:2268
Joubert Syndrome With Hepatic Defect	Intrahepatic biliary atresia, Cirrhosis, Neoplasm of the liver, Hydrocephalus, Apnea, Abnormal pa...	ORPHA:1454
Osteopetrosis, Autosomal Recessive 7	Lateral ventricle dilatation, Hydrocephalus, Recurrent pneumonia, Growth delay, Hepatomegaly, Spl...	OMIM:612301
Vacterl With Hydrocephalus	Aqueductal stenosis, Esophageal atresia, Spina bifida, Arrhinencephaly, Hydrocephalus, Anal atres...	ORPHA:3412
Cole-Carpenter Syndrome 1	Short stature, Hydrocephalus, Communicating hydrocephalus	OMIM:112240
Osteopetrosis, Autosomal Recessive 5	Ventriculomegaly, Short stature, Hydrocephalus, Hepatosplenomegaly, Growth delay, Hepatomegaly, S...	OMIM:259720
Aromatic L-Amino Acid Decarboxylase Deficiency	Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy...	OMIM:608643
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycorrhachia, Hydrocephalus, Left ventricular hypertrophy, Increased CSF lactate	ORPHA:90065
Arachnoiditis	Hydrocephalus	ORPHA:137817
Pontocerebellar Hypoplasia, Type 7	Apnea, Hydrocephalus, High palate, Ventriculomegaly	OMIM:614969
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus, Severe short stature, Neonatal short-limb short stature, Cleft palate	OMIM:224400
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Abnormality of the pancreas, Narrow palate, Hydrocephalus, Respiratory distress, Anteriorly place...	ORPHA:1555
16Q24.3 Microdeletion Syndrome	High palate, Ventricular septal defect, Ventriculomegaly, Dilated cardiomyopathy, Dysphagia, Colp...	ORPHA:261250
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Multiple Sulfatase Deficiency	Short stature, Hydrocephalus, Splenomegaly, Hepatomegaly	ORPHA:585
Spondyloenchondrodysplasia	Ventriculomegaly, Short stature, Hepatitis, Abnormal lateral ventricle morphology, Disproportiona...	ORPHA:1855
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele	OMIM:614195
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus, Agenesis of corpus callosum	OMIM:619320
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:618476
Microphthalmia, Syndromic 2	Double outlet right ventricle, Ventricular septal defect, Short stature, Mitral valve prolapse, B...	OMIM:300166
Glycogen Storage Disease Of Heart, Lethal Congenital	Pericardial effusion, Hydrocephalus, Macroglossia, Respiratory distress, Pleural effusion, Apnea,...	OMIM:261740
Osteopathia Striata With Cranial Sclerosis	Gastroesophageal reflux, High palate, Ventricular septal defect, Short stature, Bifid uvula, Hydr...	OMIM:300373
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
1Q21.1 Microdeletion Syndrome	High palate, Abnormal cardiac septum morphology, Short stature, Ankyloglossia, Hydrocephalus, Int...	ORPHA:250989
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Patent foramen ovale, Atrial septal defect, Lateral ventricle dilatation	OMIM:620075
Beare-Stevenson Cutis Gyrata Syndrome	High palate, Narrow palate, Ventriculomegaly, Bifid uvula, Hydrocephalus, Respiratory distress, A...	OMIM:123790
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Cleft palate, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:1812
Apert Syndrome	Rhizomelic arm shortening, Narrow palate, Ventriculomegaly, Ectopic anus, Esophageal atresia, Ven...	OMIM:101200
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Mucopolysaccharidosis, Type Vi	Pulmonary arterial hypertension, Short stature, Mitral stenosis, Hydrocephalus, Disproportionate ...	OMIM:253200
Methylmalonate Semialdehyde Dehydrogenase Deficiency	High palate, Lateral ventricle dilatation	OMIM:614105
Marfanoid-Progeroid-Lipodystrophy Syndrome	High palate, Mitral valve prolapse, Hydrocephalus, Lateral ventricular asymmetry, High, narrow pa...	OMIM:616914
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus, Chronic rhinitis due to narrow nasal airway, Hepatosplenomegaly	OMIM:259710
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Patent foramen ovale, Pulmonic stenosis, Lateral ventricle dilatation	OMIM:618914
Hurler Syndrome	Cardiomyopathy, Short stature, Hydrocephalus, Macroglossia, Hepatosplenomegaly, Hepatomegaly, Spl...	OMIM:607014
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, High palate, Ventriculomegaly, Lateral ventricle dilatation, Dysphagia,...	ORPHA:572798
Beemer-Ertbruggen Syndrome	Respiratory insufficiency, Communicating hydrocephalus	ORPHA:1237
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Narcolepsy	OMIM:604121
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure, Hydrocephalus, Ventriculomegaly	OMIM:616538
Congenital Disorder Of Glycosylation, Type Iig	High palate, Rhizomelia, Lateral ventricle dilatation, Short stature, Left ventricular hypertroph...	OMIM:611209
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Respiratory insufficiency, Ventricular septal defect, Short stature, Hydrocep...	ORPHA:163979
Monosomy 18Q	High palate, Absence of the pulmonary valve, Short stature, Secundum atrial septal defect, Hydroc...	ORPHA:1600
Orofaciodigital Syndrome I	Pancreatic cysts, Lobulated tongue, Hepatic fibrosis, Bifid tongue, High palate, Short stature, T...	OMIM:311200
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Fanconi Anemia, Complementation Group D2	Short stature, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Abnormal heart morph...	OMIM:227646
Joubert Syndrome 2	Neonatal breathing dysregulation, High palate, Encephalocele, Episodic tachypnea, Hydrocephalus, ...	OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Ventriculomegaly, Hydrocephalus, Macroglossia, Cleft palate, Agenesis of corpus ca...	OMIM:613150
47,Xyy Syndrome	Asthma, Oligospermia, Hydrocephalus, Azoospermia	ORPHA:8
Marshall-Smith Syndrome	Pulmonary arterial hypertension, High palate, Aspiration pneumonia, Recurrent aspiration pneumoni...	OMIM:602535
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pulmonary arterial hypertension, Mitral valve calcification, Hepatic fibrosis, Bacterial endocard...	ORPHA:2072
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Cog5-Cdg	High palate, Lateral ventricle dilatation, Short stature, Hepatosplenomegaly, Hepatomegaly, Intra...	ORPHA:263487
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Lateral ventricle dilatation, Pericardial effusion, Left ventricular hypertroph...	OMIM:619487
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, High palate, Short stature	ORPHA:2720
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Pulmonary arterial hypertension, Patent foramen ovale, Hydrocephalus, Respiratory distress, Macro...	ORPHA:505248
Noonan Syndrome 14	Lateral ventricle dilatation, Short stature, Mitral valve prolapse, Hypertrophic cardiomyopathy, ...	OMIM:619745
Gaucher Disease	Respiratory insufficiency, Pulmonary arterial hypertension, Cirrhosis, Abnormal pericardium morph...	ORPHA:355
Crouzon Syndrome	Sleep apnea, Hydrocephalus, High palate	OMIM:123500
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Upper airway obstruction, Hydrocephalus, Atrial septal defect	OMIM:207410
Fanconi Anemia	Ventriculomegaly, Abnormal cardiac septum morphology, Hypertrophic cardiomyopathy, Cleft palate, ...	ORPHA:84
Jacobsen Syndrome	Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Atrial septal defect, Holoprosencepha...	OMIM:147791
Cardiofaciocutaneous Syndrome	High palate, Short stature, Abnormality of the gastrointestinal tract, Functional abnormality of ...	ORPHA:1340
H Syndrome	Bronchiectasis, Short stature, Malabsorption, Hydrocephalus, Azoospermia, Hepatosplenomegaly, Chr...	ORPHA:168569
Cerebrooculonasal Syndrome	High palate, Narrow palate, Ventriculomegaly, Encephalocele, Hydrocephalus, Cleft palate, Dandy-W...	OMIM:605627
Kyphoscoliotic Ehlers-Danlos Syndrome	Bicuspid aortic valve, Dextrocardia, High palate, Short stature	ORPHA:536545
Distal Monosomy 10Q	High palate, Lateral ventricle dilatation, Short stature, Anal atresia, Atrial septal defect, Spi...	ORPHA:96148
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	High palate, Normal pressure hydrocephalus, Lateral ventricle dilatation, Partial agenesis of the...	ORPHA:300570
Iniencephaly	Spinal dysraphism, Encephalocele, Rhizomelia, Myelomeningocele, Spina bifida, Anencephaly, Hydroc...	ORPHA:63259
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus, Splenomegaly, Hepatomegaly	OMIM:259700
Meckel Syndrome, Type 1	Asplenia, Lobulated tongue, Dilated fourth ventricle, Ventriculomegaly, Abnormal cardiac septum m...	OMIM:249000
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Agenesis of corpus callosum, Dilated third ventricle, High palate, Lateral ventricle dilatation	OMIM:619244
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation, Dysphagia	ORPHA:488627
Semilobar Holoprosencephaly	Central apnea, Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, ...	ORPHA:220386
Dubowitz Syndrome	Respiratory insufficiency, High palate, Short stature, Malabsorption, Asthma, Hydrocephalus, Subm...	ORPHA:235
Alobar Holoprosencephaly	Central apnea, Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, ...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, ...	ORPHA:93924
Coccidioidomycosis	Hypoglycorrhachia, Abnormality of the liver, Pleural empyema, CSF pleocytosis, Peritonitis, Hydro...	ORPHA:228123
Mohr Syndrome	Lobulated tongue, High palate, Bifid tongue, Short stature, Tongue nodules, Hydrocephalus, Cleft ...	OMIM:252100
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Patent foramen ovale, Cardiomegaly, Rhizomelia, Short stature, Bicuspid aortic valve, Mitral valv...	OMIM:245600
15Q Overgrowth Syndrome	Pulmonary arterial hypertension, High palate, Agenesis of corpus callosum, Bifid uvula, Hydroceph...	ORPHA:314585
Trisomy 8P	Abnormal atrioventricular connection, Malrotation of small bowel, Aplasia/Hypoplasia of the gallb...	ORPHA:264450
Mucopolysaccharidosis Type 3	Aspiration pneumonia, Ventriculomegaly, Abnormal mitral valve morphology, Malabsorption, Hydrocep...	ORPHA:581
Fanconi Anemia, Complementation Group L	Esophageal atresia, Hydrocephalus, Anal atresia, Tracheoesophageal fistula, Growth delay, Cleft p...	OMIM:614083
Histiocytoid Cardiomyopathy	Cardiomegaly, Ventricular septal defect, Hydrocephalus, Cough, Hepatomegaly, Cleft palate, Agenes...	ORPHA:137675
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary arterial hypertension, Pulmonary embolism, Jaundice, Hydrocephalus, Glossitis, Respirat...	ORPHA:79282
Khan-Khan-Katsanis Syndrome	Patent foramen ovale, Ventriculomegaly, Short stature, Dysphagia, Sleep apnea, Intrauterine growt...	OMIM:618460
Cardiofaciocutaneous Syndrome 1	Gastroesophageal reflux, High palate, Short stature, Pulmonic stenosis, Hydrocephalus, Submucous ...	OMIM:115150
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Abnormal cardiac septum morphology, Hydrocephalus, Anal atresia, Intestinal malrot...	ORPHA:2166
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Dilated third ventricle, Ventricular septal defect, Lateral vent...	ORPHA:464738
Fraser Syndrome 3	Tracheal atresia, Hydrocephalus, Stillbirth	OMIM:617667
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Secundum atrial septal defect, Hydrocephalus	OMIM:619951
Achondroplasia	Rhizomelia, Hydrocephalus, Respiratory distress, Upper airway obstruction, Neonatal short-limb sh...	OMIM:100800
Peroxisome Biogenesis Disorder 5A (Zellweger)	High palate, Ventricular septal defect, Jaundice, Atrial septal defect, Intrahepatic biliary dysg...	OMIM:614866
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Aspiration, Lateral ventricle dilatation, Dysphagia	ORPHA:2148
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Wa...	OMIM:614643
Kabuki Syndrome 1	High palate, Ventricular septal defect, Recurrent aspiration pneumonia, Lateral ventricle dilatat...	OMIM:147920
Kohlschutter-Tonz Syndrome-Like	Gastroesophageal reflux, Ventriculomegaly, Lateral ventricle dilatation, Ventricular septal defec...	OMIM:619229
Lethal Omphalocele-Cleft Palate Syndrome	Cleft palate, Hydrocephalus, Bifid uvula, Cleft soft palate	ORPHA:2736
Smith-Lemli-Opitz Syndrome	Bifid uvula, Hepatic steatosis, Hypertrophic cardiomyopathy, Holoprosencephaly, Hepatomegaly, Cle...	OMIM:270400
Proteus-Like Syndrome	Hydrocephalus, Splenomegaly, Communicating hydrocephalus	ORPHA:2969
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Short stature	ORPHA:1064
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Growth delay, Communicating hydrocephalus, Splenomegaly, Cardiomyopathy	OMIM:616084
Pfeiffer Syndrome	Hydrocephalus, High palate	OMIM:101600
Costello Syndrome	Respiratory insufficiency, Pneumothorax, High palate, Ventriculomegaly, Ventricular septal defect...	OMIM:218040
Aymé-Gripp Syndrome	Ventriculomegaly, Short stature, Pericardial effusion, Hydrocephalus, Pericarditis, Cleft palate,...	ORPHA:1272
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Mitral valve prolapse, Hydrocephalus, High palate	OMIM:104350
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Apnea, Hydrocephalus, Ventriculomegaly	ORPHA:395
Hereditary Cryohydrocytosis With Reduced Stomatin	Hypoglycorrhachia, Short stature, Jaundice, Communicating hydrocephalus, Hepatosplenomegaly, Post...	ORPHA:168577
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Linear Skin Defects With Multiple Congenital Anomalies 3	Agenesis of corpus callosum, Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Lateral ventric...	OMIM:300952
Combined Oxidative Phosphorylation Defect Type 39	Increased CSF lactate, Intrauterine growth retardation, Lateral ventricle dilatation	ORPHA:565624
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Anal atresia, Meningoencephalocele,...	OMIM:236670
Lymphangioleiomyomatosis	Pneumothorax, Hydrocephalus, Chylopericardium, Emphysema, Restrictive ventilatory defect, Dyspnea...	ORPHA:538
Poland Syndrome	Abnormality of the liver, Encephalocele, Atrial septal defect, Spina bifida occulta, Dextrocardia	ORPHA:2911
Acrodysostosis 1 With Or Without Hormone Resistance	Short stature, Mild postnatal growth retardation, Hydrocephalus, Disproportionate short-limb shor...	OMIM:101800
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:617296
Alexander Disease	Respiratory insufficiency, High palate, Aqueductal stenosis, Hydrocephalus, Dysphagia, Sleep apne...	ORPHA:58
Hydrolethalus Syndrome 1	Ventricular septal defect, Arrhinencephaly, Anencephaly, Dandy-Walker malformation, Tracheal sten...	OMIM:236680
Holoprosencephaly	Respiratory insufficiency, Gastroesophageal reflux, Spinal dysraphism, Encephalocele, Ventricular...	ORPHA:2162
Endocrine-Cerebroosteodysplasia	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Median cleft palate	OMIM:612651
Aicardi Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Spina bifida, Choroid plexus cyst, Dandy-W...	OMIM:304050
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of the anus, Abnormal cardiac septum morphology, Agenesis of corpus callosum, Hydroce...	ORPHA:2556
7Q11.23 Microduplication Syndrome	High palate, Ventriculomegaly, Ventricular septal defect, Short stature, Hydrocephalus, Atrial se...	ORPHA:96121
Functioning Gonadotropic Adenoma	Oligospermia, Delayed puberty, Hydrocephalus	ORPHA:91348
Craniopharyngioma	Hydrocephalus, Delayed puberty, Growth delay, Sleep apnea, Proportionate short stature, Postnatal...	ORPHA:54595
22Q11.2 Deletion Syndrome	Meningocele, Truncus arteriosus, Cleft palate, Splenomegaly, Ventricular septal defect, Asthma, S...	ORPHA:567
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cleft palate, Anencephaly, Hydrocephalus, Atrial septal defect	OMIM:616546
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory insufficiency, High palate, Repeated pneumothoraces, Mitral valve prolapse, Hydroceph...	ORPHA:536467
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Glossoptosis, Abnormal cardiac septum morphology, Hydrocephalus,...	ORPHA:90652
Cole-Carpenter Syndrome	Communicating hydrocephalus, Intrauterine growth retardation, Short stature	ORPHA:2050
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Respiratory insufficiency, Gastroesophageal reflux, Patent foramen ovale, Ventricular septal defe...	OMIM:210710
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Asthma, Celiac disease, Dysplastic corpus ...	ORPHA:544488
Shprintzen-Goldberg Syndrome	Gastroesophageal reflux, Ventriculomegaly, Mitral valve prolapse, Communicating hydrocephalus, Ab...	ORPHA:2462
Shprintzen-Goldberg Craniosynostosis Syndrome	Gastroesophageal reflux, High palate, Narrow palate, Mitral valve prolapse, Hydrocephalus, Obstru...	OMIM:182212
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Holoprosencephaly 7	Hydrocephalus, Semilobar holoprosencephaly, Median cleft lip and palate, Lobar holoprosencephaly,...	OMIM:610828
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Hydrocephalus, Ventriculomegaly	OMIM:613603
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Cryptococcosis	Cirrhosis, Hydrocephalus, Respiratory distress, Pleural effusion, Dyspnea, Cough, Peritonitis, Pn...	ORPHA:1546
Mend Syndrome	High palate, Short stature, Hydrocephalus, Dandy-Walker malformation, Abnormal heart morphology, ...	ORPHA:401973
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Achalasia, Growth delay, Short stature	OMIM:616007
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Glutaryl-Coa Dehydrogenase Deficiency	Subependymal nodules, Communicating hydrocephalus, Ventriculomegaly, Dysphagia	ORPHA:25
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus, High palate	OMIM:618590
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Abnormal heart morphology, Hydrocephalus, Chylothorax	ORPHA:137667
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Ventricular septal defect, Lateral ventricle dilatation, Atrial septal defect, ...	OMIM:263520
Raine Syndrome	High palate, Short stature, Hydrocephalus, Protruding tongue, Cleft palate, Neonatal death	OMIM:259775
Mucopolysaccharidosis Type 2	Abnormal mitral valve morphology, Short stature, Communicating hydrocephalus, Abnormal heart valv...	ORPHA:580
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Hydrocephalus, Apnea, Chronic rhinitis, Abnormal pulmonary valve...	ORPHA:667
Sacral Defect With Anterior Meningocele	Meningocele, Myelomeningocele, Hydromyelia, Hydrocephalus, Myeloschisis, Dermal sinus tract	OMIM:600145
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Cousin Syndrome	Rhizomelia, Hydrocephalus, Disproportionate short stature, Hydranencephaly, Microglossia, Cleft p...	OMIM:260660
Niemann-Pick Disease Type C	Limb dystonia, Narcolepsy, Tremor, Axial dystonia, Dystonia, Intention tremor	ORPHA:646
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Exaggerated startle response, Tremor	OMIM:618056
Hyperparathyroidism, Transient Neonatal	Gastroesophageal reflux, Ventriculomegaly, Splenic cyst, Communicating hydrocephalus, Respiratory...	OMIM:618188
Mosaic Trisomy 1	Ventricular septal defect, Lateral ventricle dilatation, Hepatic agenesis, Cleft palate, Agenesis...	ORPHA:1692
Restrictive Dermopathy	Microcolon, Submucous cleft hard palate, Atrial septal defect, Dextrocardia, Transposition of the...	ORPHA:1662
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Basal Cell Nevus Syndrome 1	Hamartomatous stomach polyps, Cardiac rhabdomyoma, Spina bifida, Hydrocephalus, Cardiac fibroma, ...	OMIM:109400
Lhermitte-Duclos Disease	Hydrocephalus, Macroglossia	ORPHA:65285
Arachnoid Cyst	Holoprosencephaly, Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele	ORPHA:2356
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, High palate, Lateral ventricle dilatation, Short stature, Atrial septal...	OMIM:619869
Sturge-Weber Syndrome	Pulmonary embolism, Hydrocephalus, Dysphagia	ORPHA:3205
Wolf-Hirschhorn Syndrome	Gastroesophageal reflux, Ventriculomegaly, Malrotation of small bowel, Ventricular septal defect,...	OMIM:194190
Dural Sinus Malformation	Hydrocephalus, Myelopathy	ORPHA:97339
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Bainbridge-Ropers Syndrome	Gastroesophageal reflux, High palate, Lateral ventricle dilatation, Intestinal malrotation, Growt...	OMIM:615485
Hajdu-Cheney Syndrome	Ventricular septal defect, Short stature, Mitral stenosis, Hydrocephalus, Intestinal malrotation,...	ORPHA:955
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	High palate, Aqueductal stenosis, Hydrocephalus, Atrial septal defect, Partial agenesis of the co...	OMIM:619512
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Cleft soft palate, Lateral ventricle dilatation	ORPHA:293725
Koolen-De Vries Syndrome Due To A Point Mutation	Ventriculomegaly, Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Postnatal growt...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Ventriculomegaly, Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Postnatal growt...	ORPHA:363958
Campomelic Dysplasia	Tracheobronchomalacia, Spinal dysraphism, High palate, Spina bifida, Hydrocephalus, Submucous cle...	OMIM:114290
Gabriele-De Vries Syndrome	Patent foramen ovale, High palate, Intrauterine growth retardation, Lateral ventricle dilatation	OMIM:617557
Kabuki Syndrome	High palate, Ventriculomegaly, Abnormal cardiac septum morphology, Short stature, Hydrocephalus, ...	ORPHA:2322
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Ventricular septal defect, Short stature, Postnatal growth retar...	ORPHA:3472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Anencephaly, Hydrocephalus, Communicating hydrocephalus, Dandy-Walker malformat...	OMIM:615287
Baller-Gerold Syndrome	High palate, Short stature, Perineal fistula, Bifid uvula, Anal atresia, Hydrocephalus, Anomalous...	OMIM:218600
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Fontaine Progeroid Syndrome	Respiratory insufficiency, Gastroesophageal reflux, Pulmonary arterial hypertension, Pneumothorax...	OMIM:612289
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Short stature	ORPHA:220295
Prader-Willi Syndrome Due To Translocation	Patent foramen ovale, High palate, Lateral ventricle dilatation, Short stature, Bifid uvula, Resp...	ORPHA:177907
Medulloblastoma	Hydrocephalus, Adenomatous colonic polyposis	ORPHA:616
Monosomy 9Q22.3	Cardiac fibroma, Hydrocephalus, Ventriculomegaly	ORPHA:77301
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Ventricular septal defect, Short stature, Aganglionic megacolon, Velopharyng...	OMIM:154400
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Neonatal respiratory distress, Disproportionate short-limb short stature, Ventriculomegaly, Later...	OMIM:619479
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Gastroesophageal reflux, High palate, Short stature, Colpocephaly	OMIM:620083
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Mend Syndrome	High palate, Short stature, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation	OMIM:300960
Hajdu-Cheney Syndrome	High palate, Ventricular septal defect, Short stature, Hydrocephalus, Intestinal malrotation	OMIM:102500
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Short stature, Hydrocephalus, Hepatic steatosis, Intestinal malrotation, Intra...	OMIM:619321
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:457284
Peters Plus Syndrome	Intestinal fistula, Ventriculomegaly, Abnormal cardiac septum morphology, Rhizomelia, Short statu...	ORPHA:709
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Gastroesophageal reflux, Patent foramen ovale, High palate, Narrow palate, Ventricular septal def...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Gastroesophageal reflux, Patent foramen ovale, High palate, Narrow palate, Ventricular septal def...	ORPHA:353277
Holoprosencephaly 9	Short stature, Hydrocephalus, Holoprosencephaly, Partial agenesis of the corpus callosum, Short h...	OMIM:610829
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Chromosome 1P36 Deletion Syndrome, Distal	Gastroesophageal reflux, Patent foramen ovale, High palate, Abnormality of the anus, Lateral vent...	OMIM:607872
Lenz-Majewski Hyperostotic Dwarfism	Bifid uvula, Submucous cleft hard palate, Hydrocephalus, Severe short stature, Cleft palate, High...	ORPHA:2658
Distal 22Q11.2 Microduplication Syndrome	High palate, Ventricular septal defect, Hydrocephalus, Anal atresia, Macroglossia, Tricuspid valv...	ORPHA:261337
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Patent foramen ovale, High palate, Ventricular septal defect, Short stature, Mitral valve prolaps...	ORPHA:363700
Osteogenesis Imperfecta	Noncommunicating hydrocephalus, Ventriculomegaly, Rhizomelia, Short stature, Mitral valve prolaps...	ORPHA:666
Asparagine Synthetase Deficiency	Exaggerated startle response	OMIM:615574
Constricting Bands, Congenital	Cleft palate, Encephalocele, Ectopia cordis	OMIM:217100
Hypoplasminogenemia	Hydrocephalus, Duodenal ulcer, Dandy-Walker malformation	ORPHA:722
Pseudoaminopterin Syndrome	Asplenia, Patent foramen ovale, High palate, Short stature, Hydrocephalus	ORPHA:221120
Loeys-Dietz Syndrome 1	Eosinophilic infiltration of the esophagus, Bicuspid aortic valve, Mitral valve prolapse, Bifid u...	OMIM:609192
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Genitourinary And/Or Brain Malformation Syndrome	Jejunal atresia, Holoprosencephaly, Ileal atresia, Dysplastic corpus callosum, Agenesis of corpus...	OMIM:618820
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Cirrhosis, Microvesicular hepatic steatosis, High palate, Lateral ventricle dilatation, Atrial se...	OMIM:300868
Keppen-Lubinsky Syndrome	Respiratory insufficiency, High palate, Lateral ventricle dilatation, Recurrent pneumonia, Upper ...	OMIM:614098
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Hepatoblastoma, Hepatomegaly, Cleft palate, Splenomegaly, Narro...	OMIM:312870
Peters-Plus Syndrome	Ventriculomegaly, Bilobate gallbladder, Ventricular septal defect, Rhizomelia, Birth length less ...	OMIM:261540
Autosomal Recessive Spastic Paraplegia Type 11	Lateral ventricle dilatation, Dysphagia	ORPHA:2822
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Gastroesophageal reflux, Hydrocephalus, Oligospermia, Anteriorly placed anus, Delayed puberty, St...	ORPHA:95699
Tay-Sachs Disease	Exaggerated startle response, Tremor, Dystonia, Laryngeal dystonia	ORPHA:845
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High palate, Ventriculomegaly, Ventricular septal defect, Ankyloglossia, Jaundice, Hydrocephalus,...	OMIM:619475
Townes-Brocks Syndrome 1	Gastroesophageal reflux, Ventricular septal defect, Rectoperineal fistula, Hydrocephalus, Duodena...	OMIM:107480
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Oeis Complex	Duplicated colon, Myelomeningocele, Hydrocephalus, Anal atresia, Intestinal malrotation, Anterior...	OMIM:258040
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Helsmoortel-Van Der Aa Syndrome	Gastroesophageal reflux, Ventriculomegaly, Lateral ventricle dilatation, Short stature, Ankyloglo...	OMIM:615873
Neurofibromatosis, Type I	Spina bifida, Hydrocephalus, Aqueductal stenosis, Short stature	OMIM:162200
Otopalatodigital Syndrome, Type Ii	Respiratory insufficiency, Short stature, Spina bifida, Hydrocephalus, Atrial septal defect, Stil...	OMIM:304120
Weaver Syndrome	Ventriculomegaly, Lateral ventricle dilatation	OMIM:277590
Cockayne Syndrome A	Splenomegaly, Normal pressure hydrocephalus, Ventriculomegaly, Short stature, Hepatomegaly, Intra...	OMIM:216400
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Gastroesophageal reflux, Ventriculomegaly, Lateral ventricle dilatation, Bifi...	ORPHA:500150
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Patent foramen ovale, Colpocephaly	ORPHA:477993
Tetraamelia Syndrome 1	Asplenia, Hydrocephalus, Anal atresia, Cleft palate	OMIM:273395
Fetal Akinesia Deformation Sequence 1	High palate, Hydrocephalus, Stillbirth, Cleft palate, High, narrow palate, Intrauterine growth re...	OMIM:208150
Microphthalmia With Limb Anomalies	High palate, Short stature, Arrhinencephaly, Hydrocephalus, Cleft palate	ORPHA:1106
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, High palate, Ventriculomegaly	OMIM:617011
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Narcolepsy	ORPHA:293987
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Dystonia	ORPHA:521426
Chilton-Okur-Chung Neurodevelopmental Syndrome	Patent foramen ovale, Short stature, Asthma, Ankyloglossia, Mild fetal ventriculomegaly, Communic...	OMIM:619841
Fraser Syndrome 1	Abnormal small intestine morphology, Encephalocele, Abnormality of the anus, Myelomeningocele, Hy...	OMIM:219000
African Trypanosomiasis	Narcolepsy, Tremor, Choreoathetosis	ORPHA:3385
Congenital Disorder Of Glycosylation, Type Iim	Gastroesophageal reflux, High palate, Lateral ventricle dilatation, Atrial septal defect, Intraut...	OMIM:300896
Genitopatellar Syndrome	Ventricular septal defect, Malrotation of small bowel, Agenesis of corpus callosum, Anal atresia,...	OMIM:606170
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Macroglossia, Recurrent gastroenteritis, Hepatosplenomegaly, Pneumonia	ORPHA:309282
Full Nf2-Related Schwannomatosis	Hydrocephalus, Myelopathy, Dysphagia	ORPHA:637
Cockayne Syndrome B	Splenomegaly, Normal pressure hydrocephalus, Severe short stature, Hepatomegaly, Intrauterine gro...	OMIM:133540
Loeys-Dietz Syndrome 2	Eosinophilic infiltration of the esophagus, Bicuspid aortic valve, Mitral valve prolapse, Bifid u...	OMIM:610168
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Meningioma	Neoplasm of the tongue, Hydrocephalus, Progressive pulmonary function impairment, Abnormality on ...	ORPHA:2495
Tuberous Sclerosis Complex	Respiratory failure, Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Respiratory distress, S...	ORPHA:805
Scalp-Ear-Nipple Syndrome	Short stature, Bifid uvula, Lateral ventricle dilatation, Cardiac myxoma	OMIM:181270
Exstrophy-Epispadias Complex	Abnormality of the gastrointestinal tract, Spina bifida, Hydrocephalus, Anal atresia, Abnormal he...	ORPHA:322
Focal Dermal Hypoplasia	Myelomeningocele, Short stature, Agenesis of corpus callosum, Hydrocephalus, Intestinal malrotati...	OMIM:305600
Wiedemann-Rautenstrauch Syndrome	Short stature, Secundum atrial septal defect, Hydrocephalus, Dandy-Walker malformation, Dysphagia...	OMIM:264090
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Floating-Harbor Syndrome	Gastroesophageal reflux, Short stature, Atrial septal defect, Mesocardia, Celiac disease, Growth ...	ORPHA:2044
Roberts-Sc Phocomelia Syndrome	High palate, Ventricular septal defect, Hydrocephalus, Biliary tract abnormality, Atrial septal d...	OMIM:268300
Schinzel-Giedion Syndrome	Abnormal heart morphology, Umbilical hernia, Neural tube defect	ORPHA:798
Coffin-Siris Syndrome 12	Gastroesophageal reflux, Patent foramen ovale, Noncommunicating hydrocephalus, High palate, Short...	OMIM:619325
Wiedemann-Rautenstrauch Syndrome	Short stature, Hydrocephalus, Intrauterine growth retardation, Severe intrauterine growth retarda...	ORPHA:3455
Neurofibromatosis Type 1	Delayed puberty, Hydrocephalus, Neoplasm of the gastrointestinal tract, Short stature	ORPHA:636
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, High palate, Ventriculomegaly	ORPHA:457359
6Q Terminal Deletion Syndrome	High, narrow palate, Colpocephaly	ORPHA:75857
Floating-Harbor Syndrome	Mesocardia, Celiac disease, Short stature, Atrial septal defect	OMIM:136140
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus, Short stature	ORPHA:3042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Split Cord Malformation	Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele	ORPHA:573278
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Lateral ventricle dilatation, Short stature, Aganglionic megacolon, Pyloric stenosis, B...	ORPHA:261537
Choreoacanthocytosis	Lateral ventricle dilatation, Dilated cardiomyopathy, Protruding tongue, Hepatomegaly, Dysphagia,...	ORPHA:2388
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Ventricular septal defect, Lateral ventricle dilatation, Short stature, Aganglionic meg...	ORPHA:261552
Craniofacial Microsomia	Ventricular septal defect, Hydrocephalus, Cleft palate, Occipital encephalocele, Tetralogy of Fal...	OMIM:164210
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Dystonia	ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

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 Dnaaf2

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 Dnaaf2.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesia.	Human molecular genetics (August 2019)	Dnaaf2^{tm1.1(KOMP)Vlcg}	31107948

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MGI Allele	Allele Type	Produced
Dnaaf2^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice
Dnaaf2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells

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Gene: Dnaaf2 MGI:1923566

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Sleep Wake

X-ray

X-ray

X-ray

X-ray

Adult LacZ

X-ray

Eye Morphology

Embryo LacZ

Eye Morphology

Auditory Brain Stem Response

Electroretinography 2

Human diseases caused by Dnaaf2 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data