Gene Summary

Name:
discs large MAGUK scaffold protein 5
Synonyms:
4933429D20Rik

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
hydrocephaly Dlg5tm1b(EUCOMM)Wtsi HET Early adult 0.00
abnormal brain morphology Dlg5tm1b(EUCOMM)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Dlg5tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 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 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 100% (2 of 2)
Heart atrium N/A homozygote Ambiguous
Axial skeleton N/A heterozygote 100% (2 of 2)
Axial skeleton N/A homozygote 100% (2 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Central nervous system ganglion N/A homozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Ear N/A homozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Outer ear N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote 50% (1 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forearm N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 50% (1 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A homozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Gut N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote 50% (1 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart ventricle N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote 100% (2 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A homozygote 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Intestine N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lower leg N/A homozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote 100% (2 of 2)
Meckel's cartilage N/A heterozygote 0.0% (0 of 2)
Meckel's cartilage N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nasal septum N/A homozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote 100% (2 of 2)
Notochord N/A heterozygote Ambiguous
Notochord N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Oral cavity N/A homozygote 100% (2 of 2)
Outflow tract N/A heterozygote Ambiguous
Outflow tract N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
Chorioallantoic placenta N/A heterozygote Not available
Chorioallantoic placenta N/A homozygote Not available
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A homozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A homozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skeleton N/A homozygote 100% (2 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 100% (2 of 2)
Spinal cord N/A heterozygote 50% (1 of 2)
Spinal cord N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A homozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A homozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Umbilical vein embryonic part N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Upper arm N/A heterozygote 100% (2 of 2)
Upper arm N/A homozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Upper leg N/A homozygote 100% (2 of 2)
Vibrissa N/A heterozygote 0.0% (0 of 2)
Vibrissa N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.72% (4 of 555)
aorta 0.18% (1 of 541)
blood 0.0%
bone marrow 0.0%
brain 0.92% (5 of 545)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 546)
cecum 5.65% (20 of 354)
cerebellum 0.37% (2 of 545)
cerebral cortex 0.37% (2 of 535)
chest bone Unavailable
colon 16.8% (21 of 125)
diaphragm 0.0%
duodenum 3.08% (4 of 130)
epididymis 12.78% (17 of 133)
esophagus 1.8% (7 of 388)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.81% (1 of 124)
heart 0.37% (2 of 535)
hindlimb 0.0%
hippocampus 0.55% (3 of 545)
hypothalamus 0.36% (2 of 549)
ileum 15.83% (19 of 120)
jejunum 9.09% (12 of 132)
kidney 4.61% (25 of 542)
large intestine 5.24% (28 of 534)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 546)
lymph node 0.19% (1 of 540)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.34% (1 of 294)
midbrain 0.0%
olfactory lobe 0.37% (2 of 543)
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.73% (4 of 546)
parathyroid gland 0.19% (1 of 526)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 544)
prostate gland 2.15% (12 of 558)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.37% (29 of 540)
spinal cord 0.37% (2 of 538)
spleen 0.37% (2 of 538)
stomach 3.51% (19 of 542)
stomach pyloric region 0.0%
striatum 0.56% (3 of 540)
sublingual gland 0.0%
submandibular gland 1.46% (2 of 137)
testis 1.09% (6 of 552)
thymus 0.19% (1 of 537)
thyroid gland 3.37% (18 of 534)
tongue 3.82% (5 of 131)
trachea 0.56% (3 of 532)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.37% (2 of 535)
vagina 0.0%
vas deferens 4.49% (16 of 356)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
atrium 2.04% (1 of 49)
axial skeleton 2.38% (1 of 42)
brain 1.74% (6 of 344)
central nervous system ganglion 2.17% (1 of 46)
dorsal root ganglion 0.0%
ear 0.29% (1 of 341)
embryo 0.28% (1 of 353)
external ear 2.13% (1 of 47)
eye 0.0%
femur pre-cartilage condensation 0.0%
footplate 0.28% (1 of 358)
forearm 0.0%
forebrain 0.29% (1 of 347)
forelimb 0.27% (1 of 376)
fronto-nasal process 2.13% (1 of 47)
gut 2.56% (1 of 39)
handplate 0.29% (1 of 348)
head 1.12% (4 of 357)
head mesenchyme 2.5% (1 of 40)
heart 0.27% (1 of 366)
heart ventricle 0.0%
hindbrain 0.57% (2 of 348)
hindlimb 0.29% (1 of 341)
humerus pre-cartilage condensation 0.0%
intestine 2.33% (1 of 43)
liver 0.3% (1 of 338)
lower leg 0.0%
lung 0.29% (1 of 342)
mandibular process 0.29% (1 of 343)
maxillary process 0.29% (1 of 347)
meckel's cartilage 0.0%
midbrain 0.28% (1 of 354)
nasal septum 2.13% (1 of 47)
nose 1.89% (1 of 53)
notochord 2.38% (1 of 42)
oral cavity 0.0%
outflow tract 0.0%
pericardium 2.38% (1 of 42)
placenta 9.68% (3 of 31)
radius-ulna pre cartilage condensation 2.33% (1 of 43)
rib pre-cartilage condensation 2.44% (1 of 41)
skeleton 1.79% (1 of 56)
skin 0.29% (1 of 348)
spinal cord 0.0%
tail 0.28% (1 of 354)
tail somite group 0.3% (1 of 337)
thoracic vertebral cartilage condensation 2.44% (1 of 41)
trunk mesenchyme 2.86% (1 of 35)
umbilical artery embryonic part 0.0%
umbilical vein embryonic part 0.0%
upper arm 0.48% (1 of 210)
upper leg 0.49% (1 of 204)
vibrissa 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 Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

95 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Dlg5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dlg5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Pineocytoma
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia ORPHA:251912
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormal CSF pyruvate family amino acid concentration, Intrauterine growth retardation, Ataxia, I... ORPHA:79243
Cach Syndrome
Abnormal pons morphology, Limb ataxia, Dysmetria, Truncal ataxia, T2 hypointense thalamus, Atroph... ORPHA:135
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Colpocephaly OMIM:614870
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait imbalance, Chronic kidney disease, Nephrotic syndrome, Dysplastic corpus callosum, Decreased... ORPHA:488627
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Dilated fourth ventricle, Lateral ventricle dilatation, Vesi... ORPHA:3078
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Micropenis, Elevated circulating creatine kinase concentration, Anencephaly, Renal... OMIM:615287
Slc35A2-Cdg
Inability to walk, Transient nephrotic syndrome, Increased circulating thyroglobulin level, Short... ORPHA:356961
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly, Ataxia OMIM:618709
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia ORPHA:99966
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:615993
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Joubert Syndrome 16
Nephronophthisis, Renal cyst, Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly OMIM:604213
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Band Heterotopia
Hydrocephalus, Ventriculomegaly OMIM:600348
Masa Syndrome
Hydrocephalus, Short stature, Shuffling gait, Ventriculomegaly, Agenesis of corpus callosum OMIM:303350
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elongated superior cerebellar peduncle, Renal cortical cysts, Rhizomelic leg shortening, Short st... ORPHA:397715
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney, Ventriculomegaly OMIM:613730
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Difficulty walking ORPHA:306669
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Scissor gait ORPHA:363654
Distal Monosomy 10Q
Ataxia, Short stature, Spina bifida occulta, Functional abnormality of the bladder, Lateral ventr... ORPHA:96148
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem ORPHA:77299
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum, Ventriculomegaly, Hydronephrosis, Molar tooth sign on MRI OMIM:617127
Lissencephaly 4
Growth delay, Colpocephaly, Agenesis of corpus callosum, Short stature OMIM:614019
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Nephronophthisis 18
Hydrocephalus, Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, T... OMIM:615862
Kleeblattschaedel
Hydrocephalus OMIM:148800
Cog5-Cdg
Micropenis, Short stature, Truncal ataxia, Atrophy/Degeneration affecting the brainstem, Lateral ... ORPHA:263487
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Hydronephrosis, Ureteral atresia OMIM:183802
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Hypoplasia of the pons, Agenesis of corpus callosum, Abnormal brain... ORPHA:300573
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Ataxia, Abnormal renal medulla morphology, Nephronophthis... OMIM:609583
Meckel Syndrome 13
Ataxia, Polycystic kidney dysplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Joubert Syndrome 7
Ataxia, Nephronophthisis, Renal cyst, Encephalocele, Molar tooth sign on MRI, Brainstem dysplasia... OMIM:611560
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Gómez-López-Hernández Syndrome
Hydrocephalus, Short stature, Abnormal brainstem morphology, Ataxia ORPHA:1532
Biemond Syndrome Type 2
Hypospadias, Hydrocephalus, Delayed puberty, Short stature ORPHA:141333
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
1Q21.1 Microduplication Syndrome
Hypospadias, Hydrocephalus ORPHA:250994
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, Gait ataxia, Growth delay, Abnormal lateral ventricle morphology, Intrauterine gr... ORPHA:488635
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Hypoplasia of the brainstem, Ventriculomegaly, Episodic ataxia ORPHA:420179
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Anencephaly, Dilated fourth ventricle, Renal cyst, Occipital encephaloce... OMIM:614175
Epilepsy, Pyridoxine-Dependent
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration OMIM:266100
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Hyperglycinemia, Intrauterine growth retardation, Hyposerinemia ORPHA:284417
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney, Ventriculo... OMIM:602200
Meckel Syndrome, Type 4
Intrauterine growth retardation, Hydrocephalus, Anencephaly, Renal cyst, Meningocele, Encephaloce... OMIM:611134
Joubert Syndrome 14
Ataxia, Hydrocephalus, Renal cyst, Growth delay, Encephalocele, Dandy-Walker malformation OMIM:614424
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Coach Syndrome 3
Ataxia, Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstit... OMIM:619113
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Increased CSF lactate, Tip-toe gait, Atrophy/Degeneration affecting the brain... ORPHA:565624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Elevated circulating creatine kinase concentration, Hypoplasia of the pons, Ventri... OMIM:613154
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Short stature, Nephropathy, Focal segmental glomerulosclerosis, Renal cys... OMIM:617056
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Dandy-Walker malformation, Renal dysplasia ORPHA:3032
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Elevated circulating creatine kinase concentration, Vesicoureteral re... OMIM:619955
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Dysmetria, Dilated fourth ventricle, Athetosis, Lateral ventricle dilatation, Difficulty ... ORPHA:572798
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Normal pressure hydrocephalus, Partial agenesis of the corpus callosum, Latera... ORPHA:300570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Hydrocephalus ORPHA:26
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Decreased response to growth hormone stimulation test, Short stature, Unilateral r... OMIM:609757
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Male urethral meatus stenosis, Hypospadias, Dilated third ventricle, Lateral v... ORPHA:464738
Pettigrew Syndrome
Hydrocephalus, Choreoathetosis, Gait ataxia, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Fried Syndrome
Gait disturbance, Hydrocephalus ORPHA:85335
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Intrauterine growth retardation, Ureteral agenesis OMIM:274265
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation, Growth delay, Short stature ORPHA:208447
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Penile hypospadias, Lateral ventricle dilatation, Renal cyst, A... ORPHA:1692
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Hydranencephaly, Hypoplasia of ... OMIM:236500
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Gait disturbance, Multicystic kidney dysplasia ORPHA:3270
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Ataxia, Nephronophthisis, Dilated fourth ventricle, Enlar... OMIM:610688
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Short stature, Hypospadias, Horseshoe kidney, Ventriculomegaly, Agenesis of corpus... OMIM:218350
6P22 Microdeletion Syndrome
Hydrocephalus, Hydronephrosis ORPHA:251046
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Renal cyst OMIM:174050
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Lateral ventricle dilatation, Glandular hypospadias, Abnormal preputium morp... ORPHA:293725
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Growth delay ORPHA:85290
Coach Syndrome 2
Hydrocephalus, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Molar tooth... OMIM:619111
Autosomal Dominant Non-Syndromic Intellectual Disability
Lateral ventricle dilatation, Short stature ORPHA:178469
Joubert Syndrome 35
Elongated superior cerebellar peduncle, Ataxia, Recurrent urinary tract infections, Multicystic k... OMIM:618161
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Renal hypoplasia/aplasia, Short stature, Abnormality of the ureter, Abnormality of... ORPHA:1834
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hydrocephalus OMIM:619470
Hydrocephalus, Normal-Pressure, 1
Gait disturbance, Normal pressure hydrocephalus, Urinary incontinence OMIM:236690
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Short stature, Macroscopic hematuria, Membranoproliferative glomer... ORPHA:251004
Achondroplasia
Hydrocephalus, Neonatal short-limb short stature, Rhizomelia, Brain stem compression OMIM:100800
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Vacterl Association With Hydrocephalus
Hydrocephalus, Renal hypoplasia, Aqueductal stenosis OMIM:276950
Pallister-Hall-Like Syndrome
Hydrocephalus, Hypothalamic hamartoma, Micropenis, Anterior hypopituitarism, Renal dysplasia, Occ... OMIM:241800
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum OMIM:300864
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Ataxia ORPHA:73256
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypoplasia of penis ORPHA:1046
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Inability to walk, Unilateral renal agenesis, Gait ataxia, Ventriculomegaly, Agene... OMIM:616362
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Urinary incontinence OMIM:182940
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Alexander Disease
Hydrocephalus, Increased CSF protein, Dysmetria, Ataxia OMIM:203450
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Akinesia, Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, Agen... OMIM:225790
Joubert Syndrome 3
Elongated superior cerebellar peduncle, Ataxia, Nephronophthisis, Enlarged fossa interpedunculari... OMIM:608629
Bresek Syndrome
Intrauterine growth retardation, Hydrocephalus, Hypoplasia of the bladder, Renal dysplasia, Renal... ORPHA:85284
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Joubert Syndrome 20
Renal cyst, Molar tooth sign on MRI OMIM:614970
Joubert Syndrome 15
Ataxia, Molar tooth sign on MRI, Nephronophthisis, Micropenis OMIM:614464
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Occipital encephalocele OMIM:614209
Joubert Syndrome 2
Elongated superior cerebellar peduncle, Hydrocephalus, Ataxia, Nephronophthisis, Thickened superi... OMIM:608091
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Multicystic kidney dysplasia, Renal cyst, Ventriculomegaly, Meningocele ORPHA:2031
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
Renal Tubular Dysgenesis
Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy ORPHA:3033
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Inability to walk, Gait disturbance, Lateral ventricle dilatation, Abnormal substantia ni... ORPHA:2822
Papillary Tumor Of The Pineal Region
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia ORPHA:251915
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Hypoplasia o... OMIM:619302
Joubert Syndrome 18
Intrauterine growth retardation, Horseshoe kidney, Molar tooth sign on MRI OMIM:614815
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Brain stem compression, Hydrocephalus, Ataxia, Aqueductal stenosis, Agenesis of... ORPHA:1136
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI, Ventriculomegaly, Stage 5 chronic kidney disease OMIM:612285
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Renal dysplasia, Ureteropelvic junction obstruction, Elevated circ... OMIM:154230
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Increased blo... ORPHA:49041
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts ORPHA:2924
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Hypoplasia of the pons, Fusion of the left and right thalami, Midline brainstem cl... OMIM:617542
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Decreased response to growth hormone stimulation test, Short sta... OMIM:609053
1Q44 Microdeletion Syndrome
Hydrocephalus, Short stature, Horseshoe kidney, Ventriculomegaly, Growth delay, Vesicoureteral re... ORPHA:238769
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Coach Syndrome 1
Ataxia, Nephronophthisis, Unilateral renal agenesis, Renal cyst, Multiple small medullary renal c... OMIM:216360
Mental Retardation, Buenos Aires Type
Hydrocephalus, Hypospadias, Abnormality of the urinary system, Partial agenesis of the corpus cal... OMIM:249630
Meckel Syndrome, Type 3
Hydrocephalus, Multicystic kidney dysplasia, Occipital encephalocele, Dandy-Walker malformation OMIM:607361
Prune Belly Syndrome
Urogenital sinus anomaly, Abnormality of the ureter, Recurrent urinary tract infections, Hydroure... ORPHA:2970
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Methylcobalamin Deficiency Type Cble
Hypoplasia of the brainstem, Hydrocephalus, Hypomethioninemia, Hyperhomocystinemia, Ventriculomeg... ORPHA:2169
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation, Ataxia, Unsteady gait ORPHA:457279
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hydrocephalus, Nephronophthisis, Short stature, Ventriculomegaly OMIM:615630
Autosomal Recessive Spastic Paraplegia Type 66
Spastic gait, Difficulty walking, Colpocephaly ORPHA:401815
Meckel Syndrome, Type 2
Anencephaly, Renal cyst, Meningocele, Encephalocele, Intrauterine growth retardation, Dandy-Walke... OMIM:603194
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hyperlipidemia, Hyperammonemia, ... ORPHA:228308
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, Short stature ORPHA:1035
Infantile Sialic Acid Storage Disease
Hydrocephalus, Nephrotic syndrome, Conjugated hyperbilirubinemia OMIM:269920
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
16P13.2 Microdeletion Syndrome
Hydrocephalus, Micropenis, Short stature, Dilated third ventricle, Gait disturbance, Ventriculome... ORPHA:500055
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele OMIM:615397
Verheij Syndrome
Short stature, Renal agenesis, Renal cyst, Renal hypoplasia, Growth delay OMIM:615583
Smith-Magenis Syndrome
Renal hypoplasia/aplasia, Short stature, Abnormality of the ureter, Gait disturbance, Hypertrigly... ORPHA:819
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Short stature, Long penis, Polycystic kidney dysplasia, Ventriculomegal... ORPHA:1988
Oxoglutaric Aciduria
Abnormal urine alpha-ketoglutarate concentration, Hydrocephalus, Short stature, Ataxia ORPHA:31
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hyperlipidemia, Myoglobinuria, C... ORPHA:157
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem ORPHA:250972
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Hypospadias, Abnormality of the ureter, Ne... OMIM:180860
Temple Syndrome
Hydrocephalus, Short stature, Hypertriglyceridemia, Hypercholesterolemia, Intrauterine growth ret... OMIM:616222
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Micropenis, Renal agenesis, Hypospadias, Renal hypoplasia ORPHA:171839
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts, Short stature ORPHA:1166
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal localization of kidney ORPHA:83473
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele, Hypoplasia of the brainstem ORPHA:352682
Joubert Syndrome 31
Truncal ataxia, Molar tooth sign on MRI, Ventriculomegaly OMIM:617761
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Elevated circulating creatine kinase concentration, Hypoplasia of the pons, Ventri... OMIM:613153
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Hydrocephalus, Renal insufficiency, Ventriculomegaly OMIM:219730
Congenital Muscular Dystrophy, Fukuyama Type
Gait disturbance, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly ORPHA:272
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged kidney, Renal cy... OMIM:619902
Cockayne Syndrome Type 1
Ataxia, Increased blood urea nitrogen, Gait disturbance, Difficulty walking, Renal insufficiency,... ORPHA:90321
Diabetic Embryopathy
Hydrocephalus, Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Spinal dysraphism, Hyd... ORPHA:1926
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Decreased response to growth hormone stimulation test, Hypospadias, Hydronephrosis... OMIM:220210
Central Precocious Puberty
Increased circulating gonadotropin level, Proportionate short stature, Hydrocephalus, Hypothalami... ORPHA:759
Plasminogen Deficiency, Type I
Nephrolithiasis, Hydrocephalus, Nephritis, Decreased level of plasminogen, Ventriculomegaly, Dand... OMIM:217090
Arima Syndrome
Occipital meningocele, Ataxia, Renal tubular atrophy, Nephronophthisis, Dilated fourth ventricle,... OMIM:243910
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly OMIM:610333
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Nephroblastoma, Ventriculomegaly OMIM:602501
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... OMIM:274150
Adult Krabbe Disease
Broad-based gait, Ataxia, Abnormal pons morphology, Abnormal medulla oblongata morphology, Gait d... ORPHA:206448
L1 Syndrome
Gait disturbance, Hydrocephalus, Aqueductal stenosis ORPHA:275543
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum, Short stature ORPHA:166024
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... OMIM:614723
Joubert Syndrome With Renal Defect
Hydrocephalus, Ataxia, Nephropathy, Gait disturbance, Renal insufficiency, Encephalocele, Molar t... ORPHA:220497
Fanconi Anemia, Complementation Group O
Renal cyst, Short stature, Hydronephrosis, Stage 5 chronic kidney disease OMIM:613390
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Dysplastic corpus callosum ORPHA:544488
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... OMIM:235400
Orthostatic Hypotension 1
Reduced circulating prolactin concentration, Hypomagnesemia, Nocturia, Increased blood urea nitrogen OMIM:223360
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Short... OMIM:120330
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... OMIM:223900
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Uremic Pruritus
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp... ORPHA:94059
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Nephrolithiasis, Postnatal growth retardation, Hydroureter, Vesicoureteral reflux OMIM:617219
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia, Short stature OMIM:181180
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Short stature, Abnormality of the kidney, Ventriculomegaly, Enc... ORPHA:93274
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Unilateral renal agenesis, Elevated circulating creatine kinase concentration, Hyp... OMIM:614576
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Elevated circulating long chain fatty acid concentration, Hyper... OMIM:608836
Meckel Syndrome, Type 6
Aplasia of the bladder, Hydrocephalus, Anencephaly, Hepatic cysts, Renal cyst, Horseshoe kidney, ... OMIM:612284
Trisomy 1Q
Hydrocephalus, Congenital megaureter, Multicystic kidney dysplasia, Ventriculomegaly, Hydronephro... ORPHA:261344
Joubert Syndrome 22
Intrauterine growth retardation, Renal hypoplasia, Molar tooth sign on MRI OMIM:615665
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Elevated circulating creatine kinase concentration, Gait distur... ORPHA:588
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Short stature ORPHA:1516
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Renal hypoplasia OMIM:228940
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Ureteral duplication, Arrhinencephaly, Renal insuffici... ORPHA:3027
Galloway-Mowat Syndrome
Nephrotic syndrome, Aqueductal stenosis, Short stature, Nephropathy, Proteinuria, Intrauterine gr... ORPHA:2065
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Vesicoureteral Reflux 3
Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Congenital megaureter, Abnormality of the urinary system, Ureter... ORPHA:2437
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormality of the ureter, Short stature ORPHA:2522
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Inability to walk by childhood/adolescence, Hydrocephalus, Steppage gait ORPHA:99947
Dysmyelination With Jaundice
Hydroureter, Hypoplasia of penis, Hydronephrosis OMIM:224250
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Hydrocephalus, Abnormality of the kidney, Ventriculome... ORPHA:2655
Congenital Toxoplasmosis
Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly ORPHA:858
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Short stature, Renal dysplasia, Renal cyst... OMIM:617260
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the ureter, Abnormality of the urethra, Renal dysplas... ORPHA:2842
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Short stature, Abnormality of the kidney, ... ORPHA:177907
Lissencephaly 5
Hydrocephalus, Occipital encephalocele, Hypoplasia of the brainstem OMIM:615191
Hemangioblastoma
Hydrocephalus, Neurogenic bladder ORPHA:252054
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Hypoplasia of penis, Short stature ORPHA:3409
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Temple Syndrome
Postnatal growth retardation, Hydrocephalus, Decreased response to growth hormone stimulation tes... ORPHA:254516
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Genitopalatocardiac Syndrome
Hypospadias, Hydrocephalus, Multicystic kidney dysplasia, Intrauterine growth retardation ORPHA:2075
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Hydrocephalus, Elevated circulating creatine kinase concentration, Dil... ORPHA:370959
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Hyperechogenic kidneys, Polycystic kidney dysplasia, Ventricu... OMIM:617866
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dilated fourth ventricle, Truncal ataxia, Dandy-Walker malformation OMIM:220220
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Anterior hypopituitarism, Ethmoidal encephalocele, Abnormal midbrain morp... ORPHA:280195
Joubert Syndrome 1
Elongated superior cerebellar peduncle, Ataxia, Nephropathy, Renal cyst, Enlarged fossa interpedu... OMIM:213300
Combined Oxidative Phosphorylation Deficiency 11
Increased CSF lactate, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Ren... OMIM:614922
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Trisomy 17P
Hydrocephalus, Hypoplasia of penis, Short stature, Polycystic kidney dysplasia, Urethral stenosis... ORPHA:261290
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis OMIM:274210
Arachnoiditis
Urinary bladder sphincter dysfunction, Hydrocephalus ORPHA:137817
Trisomy 13
Abnormality of the ureter, Multiple renal cysts, Hydronephrosis, Displacement of the urethral mea... ORPHA:3378
Distal Tetrasomy 15Q
Hydrocephalus, Abnormality of the kidney, Nephroblastoma, Polycystic kidney dysplasia, Horseshoe ... ORPHA:314588
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Micropenis, Short stature, Hypospadias, Nephroblastoma, Renal cyst, Ventriculomega... OMIM:257300
Simpson-Golabi-Behmel Syndrome, Type 2
Multicystic kidney dysplasia, Micropenis OMIM:300209
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Abnormal brainstem morphology, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Elevated circulating creatine kinase concentration, Hypoplasia of the pons, Hypopl... OMIM:615181
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Ataxia, Abnormality of the cerebrospinal fluid, Dilated third ventricle, Atrophy/Degeneration aff... ORPHA:314404
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis OMIM:307000
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Ataxia, Nephropathy, Renal insufficiency, Encephalocele, Molar tooth sign on MRI ORPHA:2318
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Short stature ORPHA:2183
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Hypoalbumin... ORPHA:255249
Dextrocardia
Abnormality of the ureter, Hydrocephalus, Abnormal renal morphology ORPHA:1666
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Short stature, Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, ... ORPHA:459061
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multiple renal cysts... OMIM:613095
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Abnormality of the ureter, Renal hypoplasia/aplasia, Short stature ORPHA:1770
Multiple Sulfatase Deficiency
Hydrocephalus, Ataxia, Short stature, Mucopolysacchariduria, Increased CSF protein, Ventriculomegaly OMIM:272200
Intellectual Developmental Disorder, Autosomal Dominant 35
Hydrocephalus, Gait ataxia, Intrauterine growth retardation, Ventriculomegaly OMIM:616355
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Hydrocephalus, Hyperbilirubinemia, Elevated circulating long chain fat... OMIM:614886
Axial Osteomalacia
Renal cyst, Elevated circulating creatine kinase concentration OMIM:109130
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Ataxia, Short stature, Colpocephaly, Ventriculomegaly, Intrauterine growth retarda... OMIM:619833
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Growth delay, Agenesis of cor... ORPHA:77298
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Ataxia, Micropenis, Hypoplasia of the pons, Choreoathetosis, Ventriculomegaly, Hyp... OMIM:614969
3C Syndrome
Hydrocephalus, Hypoplasia of penis, Short stature, Hypospadias, Ventriculomegaly, Hydronephrosis,... ORPHA:7
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Pelvis-Shoulder Dysplasia
Hydrocephalus, Short stature, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb short... ORPHA:2839
Aredyld Syndrome
Abnormality of the ureter, Intrauterine growth retardation, Short stature ORPHA:1133
Orofaciodigital Syndrome Vi
Short stature, Renal agenesis, Hypothalamic hamartoma, Renal dysplasia, Molar tooth sign on MRI OMIM:277170
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia OMIM:618845
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ataxia, Ureteral stenosis, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Exstrophy-Epispadias Complex
Bladder duplication, Hydrocephalus, Cystocele, Abnormality of the kidney, Abnormality of the uret... ORPHA:322
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Tubulointerstitial fibrosis, Enlarged kidney, ... OMIM:263200
Alagille Syndrome 2
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria OMIM:610205
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Gait disturbance, Hydrocephalus ORPHA:2181
Marden-Walker Syndrome
Hydrocephalus, Renal hypoplasia/aplasia, Severe short stature, Abnormal penis morphology, Abnorma... ORPHA:2461
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Communicating hydrocephalus, Short stature ORPHA:1064
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Autosomal Recessive Spondylocostal Dysostosis
Short stature, Hypospadias, Abnormality of the ureter, Spina bifida occulta, Meningocele, Intraut... ORPHA:2311
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Short stature OMIM:300558
Birt-Hogg-Dube Syndrome
Renal cell carcinoma, Renal cyst, Renal neoplasm OMIM:135150
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Hyperbilirubinemia, Abnormal serum bile acid concentration, Renal cyst, Conjugated hy... ORPHA:79303
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Renal cyst, Nephropathy, Hematuria OMIM:611773
Caudal Duplication
Myelomeningocele, Renal hypoplasia/aplasia, Abnormal penis morphology, Ureteral duplication, Spin... ORPHA:1756
Kleefstra Syndrome
Hypoplasia of penis, Micropenis, Short stature, Hypospadias, Renal cyst, Renal insufficiency, Hyd... ORPHA:261494
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Spastic gait, Dilated third ventricle, Tip-toe gait OMIM:617296
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Unilateral renal agenesis, Abnormality of the kidney, Hypospadias, Glycosuria, A... OMIM:137920
Hydrocephalus With Associated Malformations
Hydrocephalus, Intrauterine growth retardation OMIM:236640
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Elevated circulating creatinine concentration, Nocturia, Increased blo... ORPHA:230
Acrofacial Dysostosis, Rodríguez Type
Renal hypoplasia/aplasia, Intrauterine growth retardation, Aqueductal stenosis, Arrhinencephaly ORPHA:1788
Meckel Syndrome, Type 5
Occipital encephalocele, Renal cyst, Anencephaly OMIM:611561
Spondyloenchondrodysplasia
Chronic kidney disease, Decreased response to growth hormone stimulation test, Short stature, Hem... ORPHA:1855
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Micropenis, Unilateral renal agenesis, Hypospadias, Birth length less than 3rd percentile, Abnorm... ORPHA:464311
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Trisomy 20P
Abnormality of the kidney, Abnormality of the ureter, Hypospadias, Multiple renal cysts, Gait dis... ORPHA:261318
Triploidy
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Meningocele, Intrauterine gro... ORPHA:3376
Joubert Syndrome 21
Elongated superior cerebellar peduncle, Ataxia, Hyperechogenic kidneys, Renal cyst, Occipital enc... OMIM:615636
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Horseshoe kidney, Aqueductal stenosis, Hydronephrosis ORPHA:93260
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Nephrotic syndrome, Dysmetria, Dilated fourth ventricle, Hypocholesterolemia, Renal cyst,... O