Gene Summary

Name:
dynein, axonemal assembly factor 2
Synonyms:
kintoun,  1110034A24Rik,  Ktu,  2810020C19Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating total protein level Dnaaf2tm1.1(KOMP)Vlcg HET Early adult 5.80×10-06
abnormal sleep behavior Dnaaf2tm1.1(KOMP)Vlcg HET Early adult 8.83×10-05
increased circulating sodium level Dnaaf2tm1.1(KOMP)Vlcg HET Early adult 6.26×10-09
embryonic lethality prior to organogenesis Dnaaf2tm1.1(KOMP)Vlcg HOM   E9.5 0.00
preweaning lethality, complete penetrance Dnaaf2tm1.1(KOMP)Vlcg HOM   Early adult 0.00
increased startle reflex Dnaaf2tm1.1(KOMP)Vlcg HET   Early adult 8.01×10-05

Download data as:  TSV  XLS

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Select physiological systems to view:
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 N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 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)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 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
Lung N/A heterozygote 100% (2 of 2)
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)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 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)
Spinal cord N/A heterozygote 100% (2 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)
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 50% (1 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
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)
Embryo N/A heterozygote 100% (2 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 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

Adult LacZ

LacZ Images Section

14 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

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

6 Images

Electroretinography 2

Rod and cone PDF

4 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 18
Immotile cilia, Abdominal situs ambiguus, Situs inversus totalis, Absent inner dynein arms, Respi... OMIM:614874
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Situs inversus totalis, Absent inner dynein arms, Absent outer dynein arms, Cilia... OMIM:613193
Ciliary Dyskinesia, Primary, 7
Abnormal axonemal organization of respiratory motile cilia, Situs inversus totalis, Abnormal cili... OMIM:611884
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Reduced respiratory ciliary beating frequency, Atrioven... OMIM:618300
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Situs inversus totalis, Absent outer dynein arms, Ciliary dyskinesia OMIM:614017
Ciliary Dyskinesia, Primary, 17
Dynein arm defect of respiratory motile cilia, Situs inversus totalis, Dextrocardia, Ciliary dysk... OMIM:614679
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Situs inversus totalis, Ventricular septal defect, Dextrocardia, Respiratory ins... OMIM:616037
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Dynein arm defect of respiratory mo... OMIM:615505
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Situs inversus totalis, Respiratory insufficiency due to defective ciliary cleara... OMIM:615500
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Polysplenia, Situs inversus totalis, ... OMIM:613807
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Situs inversus totalis, Absent respiratory ciliary axoneme radial spokes, Ciliary... OMIM:616481
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Immotile cilia, Situs inversus totalis, Dextrocardia, Absent inner and outer dyn... OMIM:615444
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Immotile cilia, Situs inversus totalis, Absent inner and outer dynein arms, Resp... OMIM:614935
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:612518
Ciliary Dyskinesia, Primary, 38
Immotile cilia, Situs inversus totalis, Dextrocardia, Absent inner and outer dynein arms OMIM:618063
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Immotile cilia, Situs inversus totalis, Dextrocardia, Absent inner and outer dyn... OMIM:606763
Ciliary Dyskinesia, Primary, 12
Short stature, Abnormal central microtubular pair morphology of respiratory motile cilia, Situs i... OMIM:612650
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Dilated fourth ventricle, Situs inversus totalis, Patent f... OMIM:620642
Heterotaxy, Visceral, 2, Autosomal
Left atrial isomerism, Polysplenia, Intestinal malrotation, Abdominal situs inversus, Atrioventri... OMIM:605376
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Absent outer dynein arms, Ciliary dyskinesia OMIM:612444
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Noncommunicating hydrocephalus OMIM:618699
Ciliary Dyskinesia, Primary, 24
Immotile cilia, Situs inversus totalis, Ciliary dyskinesia OMIM:615481
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Ciliary dyskinesia OMIM:608644
Ciliary Dyskinesia, Primary, 23
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... OMIM:615451
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Situs inversus totalis, Coiled sperm flagella, Short sperm flagella, Ciliary dys... OMIM:620197
Ciliary Dyskinesia, Primary, 25
Gastroesophageal reflux, Polysplenia, Immotile cilia, Situs inversus totalis, Dextrocardia, Cilia... OMIM:615482
Ciliary Dyskinesia, Primary, 29
Situs inversus totalis, Ciliary dyskinesia OMIM:615872
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis, Situs inversus total... OMIM:613808
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Situs inversus totalis OMIM:620032
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... OMIM:615504
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Immotile cilia, Situs inversus totalis, Asplenia, Communicating hydrocephalus, A... OMIM:244400
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Dextrocardia
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Intestinal malrotatio... ORPHA:1666
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Abdominal situs inversus, Atria... OMIM:617205
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Situs inversus tot... OMIM:608647
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... ORPHA:1908
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Colonic Atresia
Peptic ulcer, Colonic atresia, Abdominal situs inversus, Abnormal mesentery morphology, Duodenal ... ORPHA:1198
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Tracheoesophageal fistula, Esophageal atresia, Hyd... OMIM:314390
Primary Ciliary Dyskinesia
Ventriculomegaly, Nasal polyposis, Polysplenia, Atrial situs ambiguous, Intestinal malrotation, A... ORPHA:244
Ciliary Dyskinesia, Primary, 35
Nasal polyposis, Abdominal situs ambiguus, Situs inversus totalis OMIM:617092
Right Atrial Isomerism
Common atrium, Total anomalous pulmonary venous return, Polysplenia, Tetralogy of Fallot, Abdomin... OMIM:208530
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus OMIM:604213
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia OMIM:618948
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Situs inversus totalis, Short sperm flagella, Absent sperm flagell... OMIM:620438
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Mirror Movements 3
Situs inversus totalis OMIM:616059
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Spondylocostal Dysostosis 4, Autosomal Recessive
Anal stenosis, Myelomeningocele, Situs inversus totalis, Ectopic anus, Hydrocephalus, Dextrocardi... OMIM:613686
Ciliary Dyskinesia, Primary, 6
Abnormal ciliary motility, Absent/shortened outer dynein arms, Abnormal respiratory motile cilium... OMIM:610852
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis, Agenesis of corpus callosum, Dysplastic corpus callosum, Short stature, M... OMIM:614833
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis OMIM:300991
Ciliary Dyskinesia, Primary, 11
Short stature, Immotile cilia, Abnormal central microtubular pair morphology of respiratory motil... OMIM:612649
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Cholestasis, Hypertrophic cardiomyopathy, Situs inver... OMIM:615382
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Abdominal situs inversus, Intestinal malrotation, Atriov... OMIM:270100
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Thiamine-Responsive Megaloblastic Anemia Syndrome
Gastroesophageal reflux, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Atria... OMIM:249270
Lissencephaly 4
Short stature, Colpocephaly, Growth delay, Agenesis of corpus callosum OMIM:614019
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Agnathia-Otocephaly Complex
Microglossia, Secundum atrial septal defect, Aglossia, Situs inversus totalis, Agenesis of corpus... OMIM:202650
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis, Atrial septal defect OMIM:619881
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Pulmonic sten... OMIM:619123
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Polysplenia, Intestinal malrotation, Mitral atresia, Atr... OMIM:616749
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... OMIM:615751
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Meckel Syndrome, Type 7
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Situs inversus totalis... OMIM:267010
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Absent inner and outer dynein arms OMIM:618801
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:215520
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia OMIM:617577
Hypoglossia With Situs Inversus
Microglossia, Polysplenia, Situs inversus totalis, Asplenia, High palate OMIM:612776
Neuroleptic Malignant Syndrome
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Tremor, Hyperuricemia, Elevat... ORPHA:94093
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Masa Syndrome
Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... OMIM:208540
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H... OMIM:615415
Ciliary Dyskinesia With Defective Radial Spokes
Immotile cilia, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Ciliary dyskin... OMIM:242670
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Reduced respiratory cili... OMIM:617091
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation, Abnormal tricuspid valve morphology, Dextrocardia, Hep... ORPHA:1759
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Ciliary Dyskinesia, Primary, 44
Heterotaxy OMIM:618781
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Tremor, Hyperglutamatemia, Hyperprolinemia, Hypoglut... ORPHA:3008
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Microglossia, Situs inversus totalis, Agenesis of corpus callosum ORPHA:990
Joubert Syndrome
Aganglionic megacolon, Encephalocele, Situs inversus totalis, Hydrocephalus ORPHA:475
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Congenital Hydrocephalus
Abnormal heart morphology, Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Duodenal atresia, Polysplenia, Intestinal malrotation, Situs inversus totalis, Partial atrioventr... OMIM:619608
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:225050
Familial Visceral Myopathy
Aganglionic megacolon, Abdominal situs inversus, Cleft palate ORPHA:2604
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Gastroesophageal reflux, Hydrocephalus ORPHA:250994
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Hyperglycinemia, Hypernatremia, Exaggerated startle response OMIM:620423
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Edinburgh Malformation Syndrome
Jaundice, Hydrocephalus OMIM:129850
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Short Stature-Wormian Bones-Dextrocardia Syndrome
Short stature, Anal atresia, Dextrocardia, High palate ORPHA:2863
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Colpocephaly, Neonatal death OMIM:614870
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
Marden-Walker Syndrome
Severe short stature, Bifid uvula, Intrauterine growth retardation, Situs inversus totalis, Submu... ORPHA:2461
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Marden-Walker Syndrome
High, narrow palate, Postnatal growth retardation, Intrauterine growth retardation, Zollinger-Ell... OMIM:248700
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse OMIM:609008
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... OMIM:607941
Wolf-Hirschhorn Syndrome
Abdominal situs inversus, Abnormal heart valve morphology, Abnormality of the gallbladder, Intrau... ORPHA:280
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Dystonia ORPHA:163921
Czeizel-Losonci Syndrome
Myelomeningocele, Tracheoesophageal fistula, Hydrocephalus, Dextrocardia, Spina bifida, Spina bif... ORPHA:2437
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Progressive Non-Infectious Anterior Vertebral Fusion
Abdominal situs inversus ORPHA:2062
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatic cysts, Dextrocardia, Hepatomegaly, Jaundice OMIM:613095
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Aganglionic megacolon, Hydrocephalus, High palate, Partial agenesis of the corp... OMIM:304100
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Proximal 16P11.2 Microdeletion Syndrome
Ventriculomegaly, Gastroesophageal reflux, Abnormal heart morphology, Abnormal aortic valve morph... ORPHA:261197
Renpenning Syndrome
High, narrow palate, Severe short stature, Heterotaxy, Anal atresia, Growth delay, Cleft palate ORPHA:3242
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus OMIM:300884
Congenital Toxoplasmosis
Ventriculomegaly, Intrauterine growth retardation, Cardiomegaly, Hydrocephalus, Hepatomegaly, Jau... ORPHA:858
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum OMIM:619302
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Mitral valve prolapse, Hydrocephalus, Short stature ORPHA:2183
Ciliary Dyskinesia, Primary, 46
Ciliary dyskinesia OMIM:619436
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Gómez-López-Hernández Syndrome
Short stature, Hydrocephalus ORPHA:1532
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Hallermann-Streiff Syndrome
High, narrow palate, Glossoptosis, Abdominal situs inversus, Proportionate short stature ORPHA:2108
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Hepatosplenomegaly, Intrauterine growth retardation, Splenomegaly, CSF lymphocy... OMIM:610333
Pseudotrisomy 13 Syndrome
Median cleft palate, Complete atrioventricular canal defect, Encephalocele, Ventricular septal de... OMIM:264480
Ciliary Dyskinesia, Primary, 21
Ciliary dyskinesia OMIM:615294
Fried Syndrome
High palate, Hydrocephalus ORPHA:85335
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Agenesis of corpus callosum OMIM:619301
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Abnormal lateral ventricle morphology, Growth delay ORPHA:488635
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Hydrocephalus, Cleft palate OMIM:258320
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Agenesis of corpus callosum, Ventricular septal defect, Hydrocephalus, Short st... OMIM:218350
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Short stature, Ciliary dyskinesia ORPHA:1882
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Intestinal malrotation, Dextrotransposition of the grea... OMIM:619657
Kleeblattschaedel
Hydrocephalus OMIM:148800
Heterotaxy, Visceral, 12, Autosomal
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... OMIM:619702
Joubert Syndrome With Ocular Defect
Encephalocele, Agenesis of corpus callosum, Aganglionic megacolon, Hydrocephalus, Dextrocardia, C... ORPHA:220493
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Mosaic Trisomy 9
Ventriculomegaly, Intestinal malrotation, Abnormal heart valve morphology, Intrauterine growth re... ORPHA:99776
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Nephronophthisis 2
Situs inversus totalis OMIM:602088
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo... ORPHA:247585
Meckel Syndrome
Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Situs inversus totalis, Ence... ORPHA:564
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Neurooculorenal Syndrome
Ventriculomegaly, Anteriorly placed anus, Intestinal malrotation, Tetralogy of Fallot with pulmon... OMIM:620305
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Double Outlet Right Ventricle
Hypoplastic left heart, Intestinal malrotation, Tetralogy of Fallot, Heterotaxy, Submucous cleft ... ORPHA:3426
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia OMIM:616726
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Hydrolethalus Syndrome 2
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Cleft palate OMIM:614120
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Dextrocardia, Ventricular septal defect OMIM:618067
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Vacterl Association With Hydrocephalus
Abnormal heart morphology, Hydrocephalus, Stillbirth, Aqueductal stenosis, Anal atresia OMIM:276950
Biemond Syndrome Type 2
Short stature, Delayed puberty, Hydrocephalus ORPHA:141333
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Tremor OMIM:608093
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Cleft palate ORPHA:945
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati... OMIM:220210
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Polysplenia, Atrioventricular canal defect, Dextrotransp... OMIM:613751
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Atrial septal defect, Lateral ventricle dilatation, Ventricular septal defect OMIM:618330
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Intrauterine growth retardation, Increased CSF lysine co... OMIM:616034
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
Congenital Muscular Dystrophy, Fukuyama Type
Intrauterine growth retardation, Ventriculomegaly, Dilated cardiomyopathy, Hydrocephalus ORPHA:272
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Ventricular septal defect OMIM:616816
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Hydrocephalus OMIM:300886
Infantile Sialic Acid Storage Disease
Splenomegaly, Cardiomegaly, Hydrocephalus, Hepatomegaly, High palate OMIM:269920
3C Syndrome
High, narrow palate, Aortic valve stenosis, Ventriculomegaly, Gastroesophageal reflux, Hypoplasti... ORPHA:7
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Agenesis of corpus callosum, Ventricular septal defect, Tracheoesophageal fistula, Esophageal atr... ORPHA:77298
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Anencephaly, Hydroceph... OMIM:611134
1Q44 Microdeletion Syndrome
Ventriculomegaly, Intestinal malrotation, Agenesis of corpus callosum, Hydrocephalus, Abnormal ca... ORPHA:238769
Johanson-Blizzard Syndrome
Anteriorly placed anus, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Dextr... ORPHA:2315
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus, Ventricular septal defect OMIM:602501
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Coach Syndrome 2
Hepatic fibrosis, Portal fibrosis, Congenital hepatic fibrosis, Agenesis of corpus callosum, Hydr... OMIM:619111
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Abnormality of the spleen, Si... ORPHA:3097
Ellis Van Creveld Syndrome
Neonatal short-limb short stature, Atrioventricular canal defect, Abnormal heart valve morphology... ORPHA:289
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Ventriculomegaly, Cholestasis, Splenomegaly, Ventricular septal defect, Hydroce... OMIM:615630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Hydrocephalus, Cardiomyopathy OMIM:613155
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Celiac disease, Hydrocephalus OMIM:248000
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Hydrocephalus ORPHA:397951
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Agenesis of corpus callosum, Left ventricular hypertrophy, Hydrocephalus, Dandy... OMIM:613153
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Hydrocephalus OMIM:618174
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, Ventriculomegaly, Ileus, Agenesis of corpus callosum, Colpocephaly, Hydrocep... OMIM:620156
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Poland Syndrome
Dextrocardia OMIM:173800
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Abnormal heart morphology, Tetralogy of Fallot, Agenesis of corpus callosum,... ORPHA:96092
Temple Syndrome
Short stature, Bifid uvula, Hydrocephalus, Postnatal growth retardation ORPHA:254516
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Lateral ventricle dilatation, Cholestasis, Congenital h... OMIM:619534
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Triploidy
Intestinal malrotation, Abnormality of the gallbladder, Intrauterine growth retardation, Abnormal... ORPHA:3376
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... OMIM:620315
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Lateral ventricle dilatation, Anteriorly placed anus, Intrauterine growth re... OMIM:612863
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Short stature, Hydrocephalus ORPHA:1516
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:618577
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, High palate, Dextrocardia, Agenesis of corpus callosum OMIM:618929
Ring Chromosome 7 Syndrome
Bifid uvula, Ventriculomegaly, Situs inversus totalis, Median cleft palate, Severe intrauterine g... ORPHA:1449
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Tracheoesophageal fistula, Atrial septal defect, Dextrocardia, High palate, Hepatomegaly, Glossit... OMIM:277380
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Martsolf Syndrome 2
Short stature, Lateral ventricle dilatation OMIM:619420
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Abnormal heart morphology, Agenesis of corpus callosum, Hydrocephalus, Atrial s... OMIM:175700
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Ventriculomegaly, Cholestasis, Intrauterine growth retardati... OMIM:614576
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus, Dextrocardia, Pyloric stenosis ORPHA:1571
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Encephalocele, Hydrocephalus, Atrial septal defect, Short stature, Holoprosence... ORPHA:93274
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... ORPHA:100924
Dengue Fever
Hypoproteinemia ORPHA:99828
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:2182
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Gastroesophageal reflux, Lateral ventricle dilatation, Increased CSF lactate, A... ORPHA:79243
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Primary Pulmonary Hypoplasia
Intrauterine growth retardation, Secundum atrial septal defect, Cleft palate, Dextrocardia ORPHA:2257
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Ventriculomegaly, Hydrocephalus, Pyloric stenosis OMIM:616355
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Short stature, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, Agenesis of corpus callosum, ... OMIM:225790
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Occipital encephalocele, Hydrocephalu... OMIM:607361
Pagod Syndrome
Hypoplastic left heart, Abnormality of the spleen, Situs inversus totalis, Encephalocele, Spina b... ORPHA:991
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Intrauterine growth retardation, Ventricular septal defect, Tracheoesophageal f... OMIM:300514
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Meckel diverticulum, Hydrocephalus, Dysphagia, Dandy-Walker malformation ORPHA:163961
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia OMIM:608688
Intellectual Developmental Disorder, X-Linked 30
Short stature, High palate, Hydrocephalus OMIM:300558
Thanatophoric Dysplasia
Ventriculomegaly, Disproportionate short-limb short stature, Intrauterine growth retardation, Hyd... ORPHA:2655
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation, Lobulated tongue OMIM:613443
Leptospirosis
Hyperproteinemia ORPHA:509
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Nasu-Hakola Disease
Functional abnormality of the gastrointestinal tract, Ventriculomegaly, Hydrocephalus ORPHA:2770
Bresek Syndrome
Intrauterine growth retardation, Neonatal death, Aganglionic megacolon, Hydrocephalus, Growth del... ORPHA:85284
Snakebite Envenomation
Hyponatremia ORPHA:449285
Microcephaly 30, Primary, Autosomal Recessive
Ventriculomegaly, Secundum atrial septal defect, Tracheal stenosis, Intrauterine growth retardati... OMIM:620183
Holt-Oram Syndrome
Hypoplastic left heart, Secundum atrial septal defect, Abdominal situs inversus, Muscular ventric... OMIM:142900
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Anorectal anomaly, Abnormality of the spleen, Abnormality of the liver, ... ORPHA:1834
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:109120
Aase-Smith Syndrome I
Dandy-Walker malformation, Hydrocephalus, Cleft palate, Ventricular septal defect OMIM:147800
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Atrial septal defect,... OMIM:615219
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Hydrocephalus, Splenomegaly, Pericarditis ORPHA:163596
Isolated Cleft Lip
Situs inversus totalis, Velopharyngeal insufficiency ORPHA:199302
Chromosome 15Q25 Deletion Syndrome
Polysplenia, Coronary artery fistula, Intrauterine growth retardation, Ventricular septal defect,... OMIM:614294
Alexander Disease Type I
Dysphagia, Hydrocephalus ORPHA:363717
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Hartsfield Syndrome
Hypernatremia OMIM:615465
Emanuel Syndrome
Aortic valve stenosis, Ventriculomegaly, Gastroesophageal reflux, Intestinal malrotation, Intraut... OMIM:609029
Emanuel Syndrome
Aortic valve stenosis, Bifid uvula, Ventriculomegaly, Gastroesophageal reflux, Growth delay, Intr... ORPHA:96170
Griscelli Syndrome
Hepatitis, Splenomegaly, Encephalocele, Hydrocephalus, Hepatomegaly, Jaundice, Short stature, Pyl... ORPHA:381
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Alg2-Cdg
Hepatomegaly, Lateral ventricle dilatation ORPHA:79326
Pallister-Hall-Like Syndrome
Microglossia, Occipital encephalocele, Hydrocephalus, Short stature, Cleft palate OMIM:241800
Metatropic Dysplasia
Severe short stature, Hydrocephalus, Cleft palate ORPHA:2635
Meacham Syndrome
Accessory spleen, Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Ventricular sept... OMIM:608978
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Dilated fourth ventricle, Agenesis of ... ORPHA:370959
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Macroglossia, Intrauterine growth retardation, Hydrocephalus ORPHA:1914
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ... OMIM:207950
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Gastroesophageal reflux, Intrauterine growth retardation, Colpocephaly, Hydroce... OMIM:619833
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Hydrolethalus
Bifid uvula, Submucous cleft hard palate, Agenesis of corpus callosum, Tracheal atresia, Hydrocep... ORPHA:2189
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Temple Syndrome
Bifid uvula, Intrauterine growth retardation, Hydrocephalus, Short stature, High palate, Cleft pa... OMIM:616222
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Weiss-Kruszka Syndrome
Ventriculomegaly, Dextrotransposition of the great arteries, Ventricular septal defect, Agenesis ... OMIM:618619
Alg8-Cdg
Hyponatremia ORPHA:79325
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Agenesis of corpus callosum, Atrial septal defect, Hydrocephalus, Short st... ORPHA:459061
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great art... ORPHA:1926
Williams-Beuren Region Duplication Syndrome
Short stature, Ventriculomegaly, High palate, Hydrocephalus OMIM:609757
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Protruding tongue, Ven... OMIM:612938
Tetrasomy 15Q26
Intrauterine growth retardation, Hydrocephalus, Atrial septal defect, High palate, Dandy-Walker m... OMIM:614846
Nephronophthisis 18
Cholestasis, Portal fibrosis, Hydrocephalus OMIM:615862
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:613090
L1 Syndrome
Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus ORPHA:275543
Distal Duplication 5Q
Short stature, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Ventricular septal defect ORPHA:96097
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Optic Pathway Glioma
Growth delay, Hydrocephalus ORPHA:2086
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Radial Aplasia, X-Linked
Anal atresia, Hydrocephalus OMIM:312190
Lowry-Maclean Syndrome
High, narrow palate, Abnormality of the abdominal organs, Atrioventricular canal defect, Intraute... ORPHA:2409
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
High, narrow palate, Hydrocephalus ORPHA:2181
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Abnormality of the gallbladder, Intrauterine growth retardation, H... ORPHA:2075
Rhombencephalosynapsis
Ventriculomegaly, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atresia, Hydroceph... ORPHA:59315
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Growth delay, Lateral ventricle dilatation, Cleft palate OMIM:615716
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Severe X-Linked Intellectual Disability, Gustavson Type
Lateral ventricle dilatation, Dilated fourth ventricle, Ventricular septal defect, Severe postnat... ORPHA:3078
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Gastroesophageal reflux, Postnatal ... ORPHA:2306
Laryngotracheoesophageal Cleft Type 4
Abnormal mesentery morphology, Abnormality of the spleen, Tracheal stenosis, Tracheoesophageal fi... ORPHA:93941
Bilateral Generalized Polymicrogyria
Gastroesophageal reflux, Lateral ventricle dilatation, Oral-pharyngeal dysphagia, Short stature, ... ORPHA:208447
Houge-Janssens Syndrome 2
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:616362
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Postnatal growth retardation, Intrauterine growth retard... OMIM:620113
Thakker-Donnai Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Communicating hydrocephalus, Ventricular se... ORPHA:1780
Combined Oxidative Phosphorylation Deficiency 3
Hyperammonemia, Tremor, Elevated circulating creatine kinase concentration, Hyponatremia, Dystonia OMIM:610505
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Postnatal growth retardation, Abnormality of the liver, Intrauterine growth ret... ORPHA:2169
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Elevated CSF D-2-hydroxyglutaric acid concentration, Lateral ventricle dilata... OMIM:600721
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Dextrotransposition of the great arteries, Ventricular septal defec... OMIM:619995
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Hydrocephalus, Cleft palate OMIM:243440
Halperin-Birk Syndrome
Ventriculomegaly, Gastroesophageal reflux, Semilobar holoprosencephaly, Pseudobulbar paralysis, I... OMIM:618651
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Intellectual Developmental Disorder, Autosomal Dominant 48
Lateral ventricle dilatation, Dilated fourth ventricle, Intrauterine growth retardation, Ventricu... OMIM:617751
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Hydrocephalus, Atrial septal defect, Ventricular septal defect OMIM:603387
Mucopolysaccharidosis, Type Ii
Severe short stature, Intestinal pseudo-obstruction, Abnormal heart valve morphology, Hepatosplen... OMIM:309900
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Cleft palate ORPHA:398189
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Agenesis of corpus callosum... OMIM:612582
Desmosterolosis
Severe short stature, Bifid uvula, Ventriculomegaly, Intestinal malrotation, Intrauterine growth ... ORPHA:35107
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Tremor, Hyponatremia, Hypertriglyceridemia, Hypopro... ORPHA:167
Renpenning Syndrome 1
Tetralogy of Fallot, Situs inversus totalis, Ventricular septal defect, Anal atresia, Atrial sept... OMIM:309500
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Short stature... OMIM:614886
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short stature, Intrauterine growth retardation, Rhizomelia, Hydrocephalus OMIM:300863
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia ORPHA:97362
Trisomy 17P