Gene Summary

Name:
calcium binding protein 4
Synonyms:
2410038D05Rik

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
abnormal heart morphology Cabp4tm1.1(KOMP)Vlcg HOM Early adult 0.00
hydrocephaly Cabp4tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal brain morphology Cabp4tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged heart Cabp4tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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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
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node 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 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis 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)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve 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)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.77% (4 of 517)
aorta 0.19% (1 of 522)
blood 0.0%
bone marrow 0.0%
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cecum 3.37% (11 of 326)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
chest bone Unavailable
colon 10% (11 of 110)
diaphragm 0.0%
duodenum 1.87% (2 of 107)
epididymis 12.39% (14 of 113)
esophagus 1.41% (5 of 354)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.2% (1 of 510)
hindlimb 0.0%
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
ileum 11.3% (13 of 115)
jejunum 3.81% (4 of 105)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.2% (1 of 512)
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.21% (1 of 480)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
stomach pyloric region 0.0%
striatum 0.39% (2 of 510)
sublingual gland 0.0%
submandibular gland 0.85% (1 of 117)
testis 0.98% (5 of 511)
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
tongue 4.72% (5 of 106)
trachea 0.59% (3 of 510)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.48% (12 of 345)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Hind Leg and Hip

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

8 Images

X-ray

XRay Images Skull Lateral Orientation

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

3 Images

Human diseases caused by Cabp4 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 Cabp4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Congenital stationary night blindness with abnormal fundus, ... ORPHA:215
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
Congenital stationary night blindness OMIM:610427
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
ORPHA:98784

The table below shows human diseases predicted to be associated to Cabp4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Ethanolaminosis
Cardiomegaly OMIM:227150
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormality of visual evoked potentials, Ap... ORPHA:827
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration, Abnormal flash visual evoked pote... OMIM:618195
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone dystrophy, Retinal detachment, Cone/cone-rod dystrophy OMIM:304030
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degeneration OMIM:180020
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Canavan Disease
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Optic atrophy ORPHA:141
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Exudative Vitreoretinopathy 6
Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detach... OMIM:616468
Congenital Glaucoma
Retinal detachment ORPHA:98976
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Optic atrophy, Ab... OMIM:616648
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... ORPHA:209943
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Hydrocephalus OMIM:300886
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Retinal Detachment
Retinal detachment OMIM:180050
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormality of visual evoked potentials, Abnormal retinal nerve fiber... ORPHA:1215
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Usher Syndrome, Type Iv
Retinal atrophy, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Re... OMIM:618144
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Coats Disease
Abnormal macular morphology, Retinal detachment, Abnormal retinal vascular morphology ORPHA:190
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Retinal detachment ORPHA:90654
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus OMIM:300884
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Congenital Hydrocephalus
Abnormal heart morphology, Colpocephaly, Ventriculomegaly, Hydrocephalus ORPHA:2185
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Abnormality of visual evoked potentials, Optic nerve misrouting, Depigme... ORPHA:352731
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Optic atrophy OMIM:613154
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia OMIM:610202
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Kleeblattschaedel
Hydrocephalus OMIM:148800
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Rod-cone dystrophy, Patchy atrophy of the retinal pigment epithelium, Undetectable visual evoked ... ORPHA:436245
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Hydrocephalus ORPHA:83473
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Lobar holoprosencephaly, Syntelencephaly, Hydroce... OMIM:609637
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Hydrocephalus ORPHA:250994
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Decreased motor nerve conduction velocity, Optic disc pa... OMIM:601152
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Ventriculomegaly, Hydrocephalus ORPHA:858
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Optic disc coloboma, Retinal detachment ORPHA:35737
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Nephronophthisis 14
Retinal degeneration OMIM:614844
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus OMIM:617281
Krabbe Disease
Decreased nerve conduction velocity, Optic atrophy, Abnormal flash visual evoked potentials OMIM:245200
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Ventriculomegaly, CSF lymphocytic pleiocytosis, H... OMIM:610333
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Norrie Disease
Retinal fold, Retinal detachment, Retinal dysplasia, Optic atrophy OMIM:310600
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Congenital stationary night blindness with abnormal fundus, ... ORPHA:215
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Optic atrophy, Decreased nerve conduction velocity OMIM:256600
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Frontal Encephalocele
Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Ectopia Lentis Et Pupillae
Retinal detachment OMIM:225200
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Vacterl Association With Hydrocephalus
Abnormal heart morphology, Aqueductal stenosis, Hydrocephalus OMIM:276950
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Ocular albinism, Hypoplasia of the fovea, Abnormality of... ORPHA:79431
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Abnormality of visual evoked potentials, Abnormal... ORPHA:320401
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly, Hydrocephalus OMIM:269920
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Ventriculomegaly, Hydrocephalus ORPHA:324416
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Decreased nerve con... OMIM:601455
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Hydrocephalus ORPHA:397951
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly OMIM:617713
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse, Hydrocephalus ORPHA:2183
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Hydrocephalus OMIM:243440
Hb Bart'S Hydrops Fetalis
Pericarditis, Splenomegaly, Hepatomegaly, Hydrocephalus ORPHA:163596
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Hydrolethalus Syndrome 2
Anencephaly, Ventriculomegaly, Hydrocephalus OMIM:614120
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Optic disc pallor, Optic atrophy, Decreased nerve conduc... ORPHA:485421
Aase-Smith Syndrome I
Dandy-Walker malformation, Ventricular septal defect, Hydrocephalus OMIM:147800
Fried Syndrome
Hydrocephalus ORPHA:85335
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventriculomegaly, Increased CSF lactate, Ventricular hypertrophy, Ca... OMIM:619051
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Left ventricular hypertrophy, Ventriculomegaly, Hydrocephalus OMIM:613153
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle, Pulmonic stenosis, Dand... OMIM:220210
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy ORPHA:702
Pettigrew Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus OMIM:304340
Pallister-Hall-Like Syndrome
Occipital encephalocele, Abnormal heart morphology, Hydrocephalus OMIM:241800
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Chorioretinal coloboma, Undetectable visual evoked potentials ORPHA:163961
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Friedreich Ataxia
Abnormality of visual evoked potentials, Decreased amplitude of sensory action potentials, Optic ... OMIM:229300
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Ventricular septal defect, Hydrocephalus OMIM:602501
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... OMIM:231550
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Hydrocephalus, Mitral valve calcification, Cardiomeg... OMIM:231005
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Undetectable visual evoked potentials OMIM:601338
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Abnormality of visual evoked potentials, Optic at... ORPHA:52368
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Macular coloboma, Retinal dystrophy, Aplasia/Hypoplasia of the optic nerve, Un... ORPHA:423479
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus OMIM:220220
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Peho Syndrome
Optic atrophy, Undetectable visual evoked potentials OMIM:260565
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Retinal degeneration, Abnormal amplitude of flash visual... ORPHA:168491
Meckel Syndrome, Type 4
Atrial septal defect, Anencephaly, Dandy-Walker malformation, Ventricular septal defect, Hydrocep... OMIM:611134
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Biventricular hypertrophy, Abnormal mi... ORPHA:860
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Micro Syndrome
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Retinal coloboma, O... ORPHA:2510
Mulibrey Nanism
Pericardial constriction, Hepatomegaly, Ventriculomegaly, Cardiomegaly, Myocardial fibrosis OMIM:253250
Spinocerebellar Ataxia Type 1
Abnormality of somatosensory evoked potentials, Abnormal nerve conduction velocity, Optic atrophy... ORPHA:98755
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:183802
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Anterior encephalocele, Hydrocephalus OMIM:614195
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Enlarged kidney, Transposition of the great arteries, Hydrocephalus OMIM:314390
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Ventriculomegaly, Hydrocephalus ORPHA:272
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus OMIM:300864
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal hypertroph... OMIM:115197
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Achondroplasia
Hydrocephalus OMIM:100800
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Optic atrophy, Abnormality of peripheral nerve conductio... ORPHA:35069
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial necrosis, Cardiomegaly, Myocardia... OMIM:300257
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:480898
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Anencephaly, Situs inversus totalis, Spinal dysraphism, Ventricular septal d... ORPHA:1908
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Endocardial fibroelastosis ORPHA:2119
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Optic atrophy, Decreased nerve conduction velocity ORPHA:309256
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Microphthalmia, Isolated 8
Retinal detachment, Optic nerve hypoplasia OMIM:615113
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Optic atrophy, Decreased nerve conduction velocity ORPHA:309263
Mpdu1-Cdg
Optic atrophy, Undetectable visual evoked potentials ORPHA:79323
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Ventricular septal defect, Hydrocephalus OMIM:219730
Greig Cephalopolysyndactyly Syndrome
Abnormal heart morphology, Ventriculomegaly, Hydrocephalus OMIM:175700
Timothy Syndrome
Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale OMIM:601005
Thanatophoric Dysplasia Type 2
Atrial septal defect, Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:93274
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:1933
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Aqueductal stenosis, Hydrocephalus ORPHA:2182
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Refsum Disease, Classic
Cardiomegaly, Increased CSF protein, Cardiomyopathy OMIM:266500
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis OMIM:212140
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis, Hydrocephalus ORPHA:2701
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Ventriculomegaly, Hydrocephalus OMIM:225790
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Splenomegaly, Hepatomegaly, Ventriculomegaly, Ventricular septal defect, Hydrocephalus OMIM:615630
Fixed Subaortic Stenosis
Bacterial endocarditis, Pulmonic stenosis, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:3092
Mend Syndrome
Dandy-Walker malformation, Aortic valve stenosis, Hydrocephalus OMIM:300960
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Ventricular septal defect, Hydrocephalus OMIM:218350
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
3C Syndrome
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Atrioventricular canal defect, Abnormal... ORPHA:7
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Meckel Syndrome, Type 3
Occipital encephalocele, Hepatomegaly, Dandy-Walker malformation, Hydrocephalus OMIM:607361
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Cardiomegaly, Ventricular septal defect, Patent foramen ovale OMIM:618652
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Mental Retardation, Buenos Aires Type
Atrial septal defect, Hydrocephalus OMIM:249630
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus OMIM:307000
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Retinal degeneration, Abnormality of pattern visual evoked potentials ORPHA:166035
Warburg Micro Syndrome 2
Optic atrophy, Undetectable visual evoked potentials OMIM:614225
Beck-Fahrner Syndrome
Ventriculomegaly, Cardiomegaly, Extra-axial cerebrospinal fluid accumulation, Ventricular septal ... OMIM:618798
Thanatophoric Dysplasia
Atrial septal defect, Ventriculomegaly, Hydrocephalus ORPHA:2655
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Increased CSF protein, Cardiomyopathy OMIM:105210
Attrv122I Amyloidosis
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly, Double outlet right ventricle, Situs inversus totalis, Abnormal ... ORPHA:244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus OMIM:615287
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Central Precocious Puberty
Hydrocephalus ORPHA:759
Temple Syndrome
Hydrocephalus OMIM:616222
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:252920
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... ORPHA:2041
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Diabetic Embryopathy
Hydrocephalus, Tetralogy of Fallot, Spinal dysraphism, Ventricular septal defect, Transposition o... ORPHA:1926
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Ventriculomegaly, Hydrocephalus OMIM:602200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Hydrocephalus OMIM:603387
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Atrial septal defect, Anencephaly, Ventricu... ORPHA:1335
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Optic disc pallor, Abnormality of pattern visual evoked potentials ORPHA:1947
Neuraminidase Deficiency
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:256550
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus OMIM:618577
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Splenomegaly, Hepatomegaly, Abnormal heart morphology, Hydrocephalus ORPHA:398124
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Triploidy
Hepatomegaly, Hydrocephalus, Holoprosencephaly, Meningocele, Abnormal cardiac septum morphology ORPHA:3376
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Orthostatic hypotension due to autonomic dysfunction, Op... ORPHA:309271
Infantile Krabbe Disease
Cherry red spot of the macula, Abnormality of visual evoked potentials, Decreased nerve conductio... ORPHA:206436
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Muscle-Eye-Brain Disease
Holoprosencephaly, Meningocele, Hydrocephalus ORPHA:588
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Splenomegaly, Ventriculomegaly, Hepatomegaly, Ventricular septal defect, Hy... OMIM:614576
Hemochromatosis, Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:235200
Nephronophthisis 18
Hydrocephalus OMIM:615862
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Right ventricular dilatation, Atrial septal defect, Dysplastic tricuspid valve, Dy... OMIM:612863
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy, Increased CSF lactate ORPHA:391428
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Cardiomyopathy, Hydrocephalus ORPHA:370959
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Dandy-Walker malformation, Hypertrophic cardiomyopathy, Ventricular septal defect, Hydrocephalus OMIM:612938
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
1Q44 Microdeletion Syndrome
Abnormal cardiac septum morphology, Ventriculomegaly, Hydrocephalus ORPHA:238769
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Tricuspid atresia, Atrial septal defect, Dextrocardia, Ve... OMIM:264480
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Prolonged brainstem auditory evoked potentials, Decrease... ORPHA:206443
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... ORPHA:439
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus OMIM:220219
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Hypertrophic cardiomyopathy, Ventriculomegaly, Ventricular septal defect OMIM:616897
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Retinal degeneration, Abnormality of pattern visual evoked potentials ORPHA:2822
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... ORPHA:324410
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Ventricular septal defect, Hydrocephalus ORPHA:77298
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Cervical myelopathy, Hydrocephalus OMIM:207950
Coach Syndrome 2
Hydrocephalus OMIM:619111
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Left ventricular hypertrophy, Hyperglycorrhachia ORPHA:90065
Thoracoabdominal Syndrome
Anencephaly, Transposition of the great arteries, Ectopia cordis, Hydrocephalus OMIM:313850
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle, Hydrocephalus OMIM:614886
Multiple Sulfatase Deficiency
Increased CSF protein, Splenomegaly, Hepatomegaly, Ventriculomegaly, Hydrocephalus OMIM:272200
Temple Syndrome
Hydrocephalus ORPHA:254516
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Czeizel-Losonci Syndrome
Myelomeningocele, Dextrocardia, Spina bifida, Hydrocephalus, Spina bifida occulta ORPHA:2437
Axenfeld-Rieger Syndrome, Type 2
Abnormal heart morphology, Hydrocephalus OMIM:601499
Emanuel Syndrome
Hydrocephalus, Atrial septal defect, Ventriculomegaly, Pulmonic stenosis, Dandy-Walker malformati... ORPHA:96170
Isotretinoin-Like Syndrome
Conotruncal defect, Abnormal cardiac atrium morphology, Abnormal cardiac ventricle morphology, Bi... ORPHA:2306
Griscelli Syndrome
Splenomegaly, Hepatomegaly, Encephalocele, Hydrocephalus ORPHA:381
Joubert Syndrome 14
Dandy-Walker malformation, Encephalocele, Hydrocephalus OMIM:614424
Mogs-Cdg
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Optic atrophy ORPHA:79330
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
B4Galt1-Cdg
Dandy-Walker malformation, Splenomegaly, Hepatomegaly, Hydrocephalus ORPHA:79332
Encephalocraniocutaneous Lipomatosis
Subvalvular aortic stenosis, Atrial septal defect, Dandy-Walker malformation, Ventricular septal ... OMIM:613001
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Dandy-Walker malformation, Atrial septal defect, Aortic valve stenosis, Hydrocephalus ORPHA:459061
Mucopolysaccharidosis, Type Vi
Abnormal heart valve morphology, Splenomegaly, Hepatomegaly, Cardiomyopathy, Hydrocephalus, Cervi... OMIM:253200
Dextrocardia
Abnormal heart morphology, Dextrocardia, Situs inversus totalis, Hydrocephalus ORPHA:1666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Dilated cardiomyopathy, Encephalocele, Atrial septal defect, Pulmonic stenosis, Tr... OMIM:253800
Intellectual Developmental Disorder, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Abnormality of visual evoked potentials OMIM:614457
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Hydrocephalus ORPHA:2075
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Patent foramen ovale, Atrial septal defect, Dandy-Walker malformation, Ventr... OMIM:612582
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
White-Sutton Syndrome
Abnormality of visual evoked potentials, Optic nerve hypoplasia, Rod-cone dystrophy OMIM:616364
Arachnoiditis
Hydrocephalus ORPHA:137817
Congenital Sialidosis Type 2
Abnormal heart morphology, Hepatosplenomegaly, Hepatomegaly, Hydrocephalus ORPHA:93400
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:201475
Hemangioblastoma
Hydrocephalus ORPHA:252054
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:261740
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatomegaly, Ventriculomegaly, Cardiomyopathy, Hydrocephalus, Ca... ORPHA:228308
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Atrial septal defect, Ventricular septal defect, Bicuspid aortic... ORPHA:363705
Trisomy 1Q
Ventriculomegaly, Ventricular septal defect, Hydrocephalus ORPHA:261344
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Pericardial effusion, Hydrocephalus OMIM:617822
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Hydrocephalus OMIM:609757
Crouzon Syndrome
Hydrocephalus ORPHA:207
Intellectual Developmental Disorder, Autosomal Dominant 36
Ventriculomegaly, Hydrocephalus OMIM:616362
Thanatophoric Dysplasia Type 1
Atrial septal defect, Ventriculomegaly, Hydrocephalus ORPHA:1860
Mucopolysaccharidosis, Type Ii
Hepatosplenomegaly, Abnormal heart valve morphology, Splenomegaly, Hepatomegaly, Hydrocephalus OMIM:309900
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Ocular albinism, Abnormality of the optic nerve ORPHA:79430
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Abnormal cardiac a... ORPHA:1329
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Encephalocele, Hydrocephalus ORPHA:974
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Whipple Disease
Hydrocephalus, Splenomegaly, Hepatomegaly, Myocarditis, Pericarditis ORPHA:3452
Joubert Syndrome
Situs inversus totalis, Encephalocele, Hydrocephalus ORPHA:475
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Ventricular septal defect, Hydrocephalus OMIM:300514
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Splenomegaly, Hepatomegaly, Cardiomyopathy, Hydrocephalus OMIM:253220
Lowry-Maclean Syndrome
Atrioventricular canal defect, Hydrocephalus ORPHA:2409
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus OMIM:618476
Gorlin Syndrome
Hydrocephalus ORPHA:377
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Ventriculomegaly OMIM:615219
Myopathy, Centronuclear, X-Linked
Hydrocephalus OMIM:310400
Hydrolethalus
Hydrocephalus, Anencephaly, Arrhinencephaly ORPHA:2189
Joubert Syndrome With Ocular Defect
Dextrocardia, Encephalocele, Hydrocephalus ORPHA:220493
Bresek Syndrome
Hydrocephalus ORPHA:85284
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Distal Tetrasomy 15Q
Dandy-Walker malformation, Abnormal heart morphology, Atrial septal defect, Hydrocephalus ORPHA:314588
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Ventriculomegaly, Cardiomegaly OMIM:608013
Cockayne Syndrome A
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Retinal atrophy, Re... OMIM:216400
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Muenke Syndrome
Hydrocephalus ORPHA:53271
Symptomatic Form Of Hemochromatosis Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy ORPHA:465508
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Trisomy 17P
Hypoplastic left heart, Aortic valve stenosis, Hydrocephalus ORPHA:261290
Multiple Sulfatase Deficiency
Splenomegaly, Hepatomegaly, Hydrocephalus ORPHA:585
Popov-Chang syndrome
Pulmonic stenosis, Hydrocephalus OMIM:618428
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Hepatomegaly, Hydrocephalus OMIM:259700
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Hepatomegaly, Ventriculomegaly, Cardiomegaly OMIM:608836
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Left atrial e... ORPHA:57777
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus ORPHA:1647
Hyperphosphatasia With Mental Retardation Syndrome 1
Abnormal heart morphology, Hydrocephalus OMIM:239300
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal aortic valve... ORPHA:579
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Colpocephaly, Histiocytoid cardiomyopathy, Atrial septal defect, Ventricular se... OMIM:309801
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Ventriculomegaly, Hydrocephalus, Aqueductal stenosis, Meningocele ORPHA:1136
Sickle Cell Anemia
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:603903
Hurler Syndrome
Hepatosplenomegaly, Endocardial fibroelastosis, Splenomegaly, Hepatomegaly, Cardiomyopathy, Hydro... OMIM:607014
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Abnormality of visual evoked potentials, Optic ne... ORPHA:909
Proteus-Like Syndrome
Communicating hydrocephalus, Splenomegaly, Hydrocephalus ORPHA:2969
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Bicuspid aortic valve, Hydrocephalus, Cardiomegaly, L... OMIM:245600
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus OMIM:617866
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hydrocephalus ORPHA:2169
Cantú Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology ORPHA:1517
Hurler Syndrome
Abnormal heart valve morphology, Endocardial fibroelastosis, Splenomegaly, Hepatomegaly, Cardiomy... ORPHA:93473
Thakker-Donnai Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the... ORPHA:1780
Fg Syndrome Type 1
Atrial septal defect, Mitral valve prolapse, Ventriculomegaly, Hydrocephalus ORPHA:93932
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Glycogen Storage Disease Ii
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:612651
Naxos Disease
Cardiomegaly, Right ventricular cardiomyopathy, Dilated cardiomyopathy, Abnormal morphology of ri... OMIM:601214
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Desmosterolosis
Anomalous pulmonary venous return, Splenomegaly, Ventriculomegaly, Hydrocephalus ORPHA:35107
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Hydrocephalus OMIM:618162
Cockayne Syndrome B
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal auditory e... OMIM:133540
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Hydrocephalus OMIM:207410
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Dyssegmental Dysplasia, Silverman-Handmaker Type
Abnormal heart morphology, Encephalocele, Hydrocephalus ORPHA:1865
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse, Hydrocephalus OMIM:104350
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Fucosidosis
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:230000
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Sandhoff Disease
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly OMIM:268800
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Hepatosplenomegaly, Patent foramen ovale, Atrial septal defect, Hypertrophic car... ORPHA:505248
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Anencephaly, Hydrocephalus OMIM:616546
Monosomy 18Q
Hydrocephalus, Pulmonary valve defects, Secundum atrial septal defect, Dysplastic pulmonary valve... ORPHA:1600
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699