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
increased eosinophil cell number Dlg5tm1b(EUCOMM)Wtsi HET   Early adult 8.48×10-05
abnormal brain morphology Dlg5tm1b(EUCOMM)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Dlg5tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
hydrocephaly Dlg5tm1b(EUCOMM)Wtsi HET 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
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 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
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 Not available
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 Not available
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
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 1.69% (1 of 59)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
external ear 1.37% (1 of 73)
eye 0.2% (1 of 507)
femur pre-cartilage condensation 1.85% (1 of 54)
footplate 0.2% (1 of 507)
forearm 0.33% (1 of 304)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
head mesenchyme 1.69% (1 of 59)
heart 0.2% (1 of 507)
heart ventricle 1.69% (1 of 59)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
humerus pre-cartilage condensation 1.59% (1 of 63)
intestine 1.75% (1 of 57)
liver 0.2% (1 of 502)
lower leg 0.33% (1 of 304)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
meckel's cartilage 0.0%
midbrain 0.2% (1 of 507)
nasal septum 1.69% (1 of 59)
nose 1.3% (1 of 77)
notochord 1.69% (1 of 59)
oral cavity 0.2% (1 of 502)
outflow tract 1.69% (1 of 59)
pericardium 1.85% (1 of 54)
placenta 16.67% (7 of 42)
radius-ulna pre cartilage condensation 1.59% (1 of 63)
rib pre-cartilage condensation 1.79% (1 of 56)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
thoracic vertebral cartilage condensation 1.85% (1 of 54)
trunk mesenchyme 1.69% (1 of 59)
umbilical artery embryonic part 1.69% (1 of 59)
umbilical vein embryonic part 1.69% (1 of 59)
upper arm 0.33% (1 of 304)
upper leg 0.33% (1 of 304)
vibrissa 1.37% (1 of 73)

Associated Images

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

Adult LacZ

LacZ Images Section

95 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Hydrocephalus OMIM:209970
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Basal ganglia necrosis, Dystonia, Basal ganglia gliosis, Basal ganglia cysts, ... ORPHA:79243
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ventriculomegaly, Ectopic kidney, Renal agenesis, Ureteral duplication, Hydroce... OMIM:602200
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia OMIM:615387
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hydrocephalus OMIM:166990
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Cach Syndrome
T2 hypointense thalamus, Truncal ataxia, Renal hypoplasia, Limb ataxia, Growth delay, Cerebral at... ORPHA:135
Pineocytoma
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251912
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Renal cyst, Colpocephaly OMIM:614870
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Microcephaly, ... OMIM:618709
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Hypoplasia of the corpus callosum, Gait disturbance, Ventriculomegaly, Multif... ORPHA:488627
Slc35A2-Cdg
Inability to walk, Abnormal renal morphology, Transient nephrotic syndrome, Cerebral white matter... ORPHA:356961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly... OMIM:615287
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Halothane Hepatitis
Eosinophilia OMIM:234350
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Difficulty walking, Bradykinesia, Cerebral cortical hemiatrophy, Dilation of lateral ve... ORPHA:306669
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Hypospadias, Microce... OMIM:617751
Kimura Disease
Eosinophilia ORPHA:482
Atypical Teratoid Rhabdoid Tumor
Cerebral calcification, Hydrocephalus, Ataxia ORPHA:99966
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Thick cerebral cortex, Dilation of lateral ventricles ORPHA:101071
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... OMIM:604213
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Vesicoureteral reflux, Severe postnatal growth retardation, Microcephal... ORPHA:3078
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Atrophy/Degeneration affecting the brainstem, Abnormal pons morphology, ... ORPHA:77299
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
D-2-Hydroxyglutaric Aciduria 1
Glutaric aciduria, Subependymal cysts, D-2-hydroxyglutaric aciduria, Multifocal cerebral white ma... OMIM:600721
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Short stature, Microcephaly, Agenesis of corpus callosum, Shuffl... OMIM:303350
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ventriculomegaly, Ectopic kidney, Secondary microcephaly, Abnormality of ... OMIM:613730
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Hypoplastic hipp... ORPHA:208447
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Dystonia, Type II lissencephaly, Postnatal growth retardation, Torti... ORPHA:300570
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Hypoplasia of the corpus callosum, Abnormal cereb... ORPHA:178469
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Increased CSF lactate, Hypoplasia of the corpus callosum, Loss of abilit... ORPHA:565624
Candidiasis, Familial, 2
Hypereosinophilia OMIM:212050
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Dilated third ventricle, Diffuse cerebral atrophy, Scissor gait, Dilation of latera... ORPHA:363654
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hyperglycinemia, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Dilation of... ORPHA:284417
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Renal insufficiency, Renal cortical cysts, Absent septum pellucidum, Ventriculome... ORPHA:397715
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Micro... OMIM:618606
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, ... OMIM:618736
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Lissencephaly, X-Linked, 1
Pachygyria, Ataxia, Postnatal growth retardation, Agyria, Micropenis, Agenesis of corpus callosum... OMIM:300067
Orofaciodigital Syndrome Xv
Ventriculomegaly, Molar tooth sign on MRI, Hydronephrosis, Agenesis of corpus callosum OMIM:617127
Wells Syndrome
Eosinophilia ORPHA:901
Joubert Syndrome 16
Nephronophthisis, Molar tooth sign on MRI, Renal cyst, Dandy-Walker malformation OMIM:614465
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Distal Monosomy 10Q
Cavum septum pellucidum, Horseshoe kidney, Acute kidney injury, Enuresis, Ataxia, Dilation of lat... ORPHA:96148
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
1Q21.1 Microduplication Syndrome
Hypospadias, Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:250994
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Meckel Syndrome, Type 10
Anencephaly, Renal cyst, Hypospadias, Molar tooth sign on MRI, Micropenis OMIM:614175
Cog5-Cdg
Neurogenic bladder, Truncal ataxia, Cerebral white matter atrophy, Urinary incontinence, Atrophy/... ORPHA:263487
Joubert Syndrome 7
Nephronophthisis, Hypoplasia of the brainstem, Brainstem dysplasia, Ataxia, Abnormal corpus callo... OMIM:611560
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Gait disturbance, Lethargy, Hydrocephalus ORPHA:26
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:183802
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Growth delay, Intrauterine growth retardation, Ab... ORPHA:488635
Biemond Syndrome Type 2
Hypospadias, Delayed puberty, Hydrocephalus, Short stature ORPHA:141333
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Hydrocephalus OMIM:300884
Gómez-López-Hernández Syndrome
Short stature, Abnormal brainstem morphology, Hydrocephalus, Ataxia ORPHA:1532
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hypoplasia of the brainstem, Renal hypoplasia, Renal dysplasia, Hydranencephaly, Renal cyst, Uret... OMIM:236500
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Nephronophthisis, Ataxia, Elongated superior cerebellar p... OMIM:609583
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydr... OMIM:613154
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Wars2-Related Combined Oxidative Phosphorylation Defect
Hypoplasia of the brainstem, Abnormal periventricular white matter morphology, Difficulty walking... ORPHA:572798
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Hypoglutaminemia, Subependymal cysts, Hyperammonemia, Dilation... OMIM:610015
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Glutaric Acidemia I
Dystonia, Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Dilatio... OMIM:231670
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Ataxia, Renal tub... OMIM:619113
Paganini-Miozzo Syndrome
Urinary incontinence, Dilation of lateral ventricles OMIM:301025
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Renal cyst, Intrauterine growth reta... OMIM:611134
Malan Overgrowth Syndrome
Hypoplasia of the brainstem, Episodic ataxia, Hypoplasia of the corpus callosum, Ventriculomegaly... ORPHA:420179
Joubert Syndrome 2
Abnormal renal physiology, Nephronophthisis, Hypoplasia of the brainstem, Thickened superior cere... OMIM:608091
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hydroceph... ORPHA:2703
Kleeblattschaedel
Hydrocephalus OMIM:148800
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Hyperuricemia, Nephropathy, Renal cyst, Chronic kidney diseas... OMIM:617056
Fried Syndrome
Gait disturbance, Hydrocephalus, Cerebral calcification ORPHA:85335
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:618914
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Diencephalic Syndrome
Long penis, Hydrocephalus ORPHA:1672
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Craniofacial Dyssynostosis With Short Stature
Horseshoe kidney, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegal... OMIM:218350
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Dandy-Walker malformation, Multicystic kidney dysplasia ORPHA:3032
Joubert Syndrome 14
Growth delay, Ataxia, Renal cyst, Hydrocephalus, Dandy-Walker malformation OMIM:614424
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Cavum septum pellucidum, Difficulty walking, Hypoplasia of the corpus callosum... ORPHA:464738
Hsd10 Disease
Ventriculomegaly, Gait disturbance, Ataxia, Frontotemporal cerebral atrophy, Postnatal growth ret... ORPHA:391417
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Glandular hypospadias, Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcep... ORPHA:293725
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Microcephaly ORPHA:1046
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Pettigrew Syndrome
Gait ataxia, Ventriculomegaly, Abnormality of the basal ganglia, Cerebral calcification, Hydrocep... OMIM:304340
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Colpocephaly,... ORPHA:2185
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Meckel Syndrome 13
Molar tooth sign on MRI, Polycystic kidney dysplasia, Ataxia OMIM:617562
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Ventriculomegaly, Neutropenia, Thr... OMIM:304790
Williams-Beuren Region Duplication Syndrome
Hypoplasia of the corpus callosum, Gait disturbance, Ventriculomegaly, Unilateral renal agenesis,... OMIM:609757
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Renal Tubular Dysgenesis
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Microcephaly ORPHA:3033
Verheij Syndrome
Renal hypoplasia, Growth delay, Cerebral atrophy, Renal cyst, Short stature, Renal agenesis, Micr... OMIM:615583
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of the ureter, Ce... ORPHA:1834
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Aicardi-Goutieres Syndrome 4
Dystonia, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebral calcificatio... OMIM:610333
Achondroplasia
Brain stem compression, Rhizomelia, Megalencephaly, Hydrocephalus, Neonatal short-limb short stature OMIM:100800
Thymic-Renal-Anal-Lung Dysplasia
Intrauterine growth retardation, Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Polycystic kidney dysplasia, Hydrocephalus OMIM:617866
Central Neurocytoma
Lethargy, Hydrocephalus, Ataxia, Cerebral calcification, Abnormal lateral ventricle morphology ORPHA:73256
Cinca Syndrome
Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia OMIM:607115
Joubert Syndrome 3
Nephronophthisis, Enlarged fossa interpeduncularis, Ataxia, Elongated superior cerebellar peduncl... OMIM:608629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Ventriculomegaly, Abnormal cerebr... OMIM:613153
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Agenesis of corpus callosum, Fusion of the left and right thalami, Abnormality of the anterior co... OMIM:617542
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Hypoplas... ORPHA:2822
Lissencephaly 5
Hypoplasia of the brainstem, Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus ... OMIM:615191
6P22 Microdeletion Syndrome
Hydronephrosis, Hydrocephalus ORPHA:251046
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Gait disturbance, Multicystic kidney dysplasia ORPHA:3270
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Agenesis of corpus callosum, Akinesia, Ventriculomegaly, Hydranencep... OMIM:225790
Coach Syndrome 2
Hydrocephalus, Elevated circulating creatinine concentration, Hyperechogenic kidneys, Molar tooth... OMIM:619111
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Mosaic Trisomy 1
Penile hypospadias, Renal cortical cysts, Polymicrogyria, Renal cyst, Micropenis, Agenesis of cor... ORPHA:1692
Methylcobalamin Deficiency Type Cble
Hypoplasia of the brainstem, Lethargy, Ventriculomegaly, Abnormal cerebral white matter morpholog... ORPHA:2169
Rhyns Syndrome
Nephronophthisis, Hypopituitarism, Multicystic kidney dysplasia ORPHA:140976
Bresek Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Growth delay, Renal dysplasia, Vesicoureteral reflux... ORPHA:85284
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Dystonia, Hydrocephalus, Simplified gyral pattern, Agenesis of corpu... OMIM:619302
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Ataxia, Renal dysplasia, Renal cyst, Stage 5 chronic kidney diseas... OMIM:266920
Joubert Syndrome 35
Recurrent urinary tract infections, Ataxia, Multicystic kidney dysplasia, Renal fibrosis, Hydrone... OMIM:618161
Hydrocephalus, Normal-Pressure, 1
Urinary incontinence, Gait disturbance, Normal pressure hydrocephalus OMIM:236690
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cerebral calcification, Elevated circulating creatine kinase concentration, Rena... ORPHA:228308
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
16P13.2 Microdeletion Syndrome
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Gait disturbance, Ventriculomeg... ORPHA:500055
Arnold-Chiari Malformation Type Ii
Neurogenic bladder, Agenesis of corpus callosum, Brain stem compression, Difficulty walking, Vent... ORPHA:1136
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Combined Oxidative Phosphorylation Deficiency 11
Lethargy, Pachygyria, Renal hypoplasia, Increased CSF lactate, Hypoplasia of the corpus callosum,... OMIM:614922
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Cerebral cortical atrophy, Vesicoureteral reflux, Short stature, Renal hypo... ORPHA:1166
Neural Tube Defects, Susceptibility To
Anencephaly, Urinary incontinence, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:182940
Joubert Syndrome 15
Nephronophthisis, Molar tooth sign on MRI, Micropenis, Ataxia OMIM:614464
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative glomerulonephritis, Delayed... ORPHA:251004
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Pachygyria, Agenesis of corpus callosum, Decreased plasma total carnitine, Cysti... ORPHA:157
Vacterl Association With Hydrocephalus
Renal hypoplasia, Hydrocephalus, Aqueductal stenosis OMIM:276950
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Joubert Syndrome 20
Molar tooth sign on MRI, Renal cyst OMIM:614970
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Anterior hypopituitarism, Renal dysplasia, Micropenis, Hydrocephalus OMIM:241800
Joubert Syndrome 22
Temporal cortical atrophy, Renal hypoplasia, Hypoplasia of the corpus callosum, Intrauterine grow... OMIM:615665
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Ventriculomegaly, Multicystic kidney dysplasia, Meningocele, Renal cyst, Short stature ORPHA:2031
Joubert Syndrome 18
Intrauterine growth retardation, Molar tooth sign on MRI, Horseshoe kidney OMIM:614815
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Nephronophthisis, Enlarged fossa interpeduncularis, Ataxi... OMIM:610688
Adult Krabbe Disease
Abnormal midbrain morphology, Gait disturbance, Ataxia, Urinary incontinence, Increased CSF prote... ORPHA:206448
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Eosinophilia OMIM:618523
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Polymicrogyria, Nephroblastoma, Hydroc... OMIM:602501
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Growth delay, Dilation of lateral ventricles ORPHA:85290
Trisomy X
Renal hypoplasia/aplasia, Attention deficit hyperactivity disorder, Multicystic kidney dysplasia ORPHA:3375
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria OMIM:614173
Papillary Tumor Of The Pineal Region
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251915
1Q44 Microdeletion Syndrome
Horseshoe kidney, Agenesis of corpus callosum, Ventriculomegaly, Growth delay, Vesicoureteral ref... ORPHA:238769
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Horseshoe kidney, Agenesis of corpus callosum, Absent septum pellucidu... OMIM:609053
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Megalencephaly, Hydrocephalus, Abnormal localization of kidney ORPHA:83473
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Abnormality of the septum pellucidum, Renal agenesis, Renal hypoplasia, Cerebral atrophy, Hypospa... ORPHA:171839
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Increased blood urea nitrog... ORPHA:49041
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hypoplasia of the brainstem, Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter... ORPHA:352682
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Hyperammonemia, Lethargy, Basal ganglia cysts, Decreased plasma total ... OMIM:608836
Mental Retardation, Buenos Aires Type
Abnormality of the urinary system, Spastic gait, Hypospadias, Microcephaly, Hydrocephalus, Partia... OMIM:249630
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Renal cyst OMIM:174050
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Nephropathy, Multicystic kidney dysplasia ORPHA:1909
Roifman Syndrome
Hepatosplenomegaly, Eosinophilia ORPHA:353298
Beta-Mercaptolactate Cysteine Disulfiduria
Short stature, Abnormality of the ureter ORPHA:1035
Say Syndrome
Microcephaly, Proximal renal tubular acidosis, Short stature, Cystic renal dysplasia OMIM:181180
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Short stature, Renal cyst OMIM:613390
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Ventriculomegaly, Molar tooth sign on MRI, Truncal ataxia OMIM:617761
Femoral-Facial Syndrome
Long penis, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal localization of... ORPHA:1988
Smith-Magenis Syndrome
Hypercholesterolemia, Aplasia/Hypoplasia of the corpus callosum, Gait disturbance, Ventriculomega... ORPHA:819
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the ureter, Renal dysplasia, Cerebral cortical atrophy,... ORPHA:2842
Immunodeficiency 49
Lymphopenia, Eosinophilia OMIM:617237
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Meckel Syndrome, Type 2
Anencephaly, Meningocele, Renal cyst, Intrauterine growth retardation, Dandy-Walker malformation OMIM:603194
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Ventriculomegaly, Recurrent urinary tract infections, Ataxia, Intrauterine gro... OMIM:619229
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Cerebral atrophy, Hydrocephalus, Nephrotic syndrome OMIM:269920
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Hematuria, Ele... ORPHA:231111
Diabetic Embryopathy
Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Microcephaly, Hydronephrosis, Renal... ORPHA:1926
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Difficulty walking, Gait disturbance, Ataxia, Postnatal growth ret... ORPHA:90321
Joubert Syndrome 1
Hypoplasia of the brainstem, Brainstem dysplasia, Enlarged fossa interpeduncularis, Nephropathy, ... OMIM:213300
Peroxisome Biogenesis Disorder 11A (Zellweger)
Polymicrogyria, Multiple renal cysts, Renal cyst, Lissencephaly OMIM:614883
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Ventriculomegaly, Chronic kidney disease, Short stature, Hydrocephalus OMIM:615630
Prune Belly Syndrome
Urogenital sinus anomaly, Hydroureter, Recurrent urinary tract infections, Abnormality of the ure... ORPHA:2970
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Abnormal midbrain morphology, Megalencephaly, Abnormal corp... ORPHA:280195
Oxoglutaric Aciduria
Short stature, Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration, Ataxia ORPHA:31
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Gait disturba... ORPHA:272
Silver-Russell Syndrome 1
Urethral valve, Abnormality of the ureter, Nephroblastoma, Congenital posterior urethral valve, I... OMIM:180860
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Microcephaly, Short stature, Abnormality of the ureter ORPHA:2522
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Abnormal cerebral white matter morphology, Ataxia, Abnormal corpus callo... ORPHA:457279
Autosomal Recessive Spastic Paraplegia Type 66
Difficulty walking, Hypoplasia of the corpus callosum, Spastic gait, Colpocephaly ORPHA:401815
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia OMIM:618999
Caudal Regression Sequence
Renal agenesis, Arrhinencephaly, Abnormality of the ureter, Vesicoureteral reflux, Ectopic kidney... ORPHA:3027
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Colpocephaly, Dysplastic corpus callosum, Polymicrogyria, Agenesis o... ORPHA:250972
Joubert Syndrome 9
Ventriculomegaly, Molar tooth sign on MRI, Stage 5 chronic kidney disease OMIM:612285
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Thick corpus callosum... ORPHA:544488
Congenital Disorder Of Glycosylation, Type Iil
Hypoplasia of the corpus callosum, Ventriculomegaly, Proximal tubulopathy, Unilateral renal agene... OMIM:614576
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Intrauterine growth retardation, Hypospadias, Hydrocephalus, Dandy-Walker malform... OMIM:220210
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Renal insufficiency, Renal corticomedullary cysts, Hydrocephalus OMIM:219730
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Short stature, Intrauterine growth retardation, Hydro... OMIM:616222
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Hydrocephalus ORPHA:324416
Galloway-Mowat Syndrome
Pachygyria, Aqueductal stenosis, Nephropathy, Short stature, Nephrotic syndrome, Intrauterine gro... ORPHA:2065
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Glutaryl-Coa Dehydrogenase Deficiency
Open operculum, Dystonia, Abnormal caudate nucleus morphology, Pallidal degeneration, Glutaric ac... ORPHA:25
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification ORPHA:1931
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Hyperuricemia, Renal tubular atrophy, Renal corticomedullary cyst... OMIM:603860
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Elevated hemoglobin A1c, Dilation of lateral ventricles OMIM:619278
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Craniofacial Dyssynostosis
Hypoplasia of the corpus callosum, Hydrocephalus, Short stature ORPHA:1516
Meckel Syndrome, Type 6
Renal cyst, Hydrocephalus, Anencephaly OMIM:612284
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatinine concent... OMIM:274150
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus, Proportionate sh... ORPHA:759
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Agenesis of corp... ORPHA:2182
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Nephropathy, Renal cyst, Leukoencephalopathy, Renal insufficiency OMIM:611773
Arima Syndrome
Nephronophthisis, Hypoplasia of the brainstem, Tubulointerstitial fibrosis, Brainstem dysplasia, ... OMIM:243910
L1 Syndrome
Gait disturbance, Hydrocephalus, Aqueductal stenosis ORPHA:275543
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Mosaic Variegated Aneuploidy Syndrome 1
Hypodysplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly... OMIM:257300
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Congenital Toxoplasmosis
Ventriculomegaly, Cerebral calcification, Intrauterine growth retardation, Microcephaly, Hydrocep... ORPHA:858
Joubert Syndrome With Renal Defect
Agenesis of corpus callosum, Gait disturbance, Nephropathy, Ataxia, Polymicrogyria, Renal insuffi... ORPHA:220497
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation, Multicystic kidney dysplasia OMIM:607361
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:175700
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Abnormal cerebral white matter morphology, Cerebral atrophy, Dilated third ventricle, Ataxia, Uri... ORPHA:314404
Radial Aplasia, X-Linked
Penile hypospadias, Hydrocephalus OMIM:312190
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Hypoplasia of the corpus callosum, Ventriculomegaly, Renal dysplasia, Renal cyst, Short stature, ... OMIM:617260
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Hypoplasia of the brainstem, Agenesis of corpus callosum, Typ... ORPHA:370959
Coach Syndrome 1
Nephronophthisis, Dystonia, Growth delay, Unilateral renal agenesis, Ataxia, Renal cyst, Stage 5 ... OMIM:216360
Peroxisome Biogenesis Disorder 12A (Zellweger)
Growth delay, Cerebral atrophy, Hyperbilirubinemia, Elevated circulating long chain fatty acid co... OMIM:614886
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Chronic kidney disease, H... ORPHA:94059
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Dystonia, Renal cortical cysts, Increased serum pyruvate, Abnormal cerebral white matter morpholo... OMIM:617668
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum,... ORPHA:1528
Leigh Syndrome With Nephrotic Syndrome
Focal T2 hyperintense basal ganglia lesion, Renal tubular acidosis, Tubulointerstitial nephritis,... ORPHA:255249
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Nephrolithiasis, Postnatal growth retardation, Hydroureter OMIM:617219
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst OMIM:228940
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, E... ORPHA:730
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Increased blood urea nitrogen, Growth delay, Glomerular sclerosis, Ele... OMIM:223900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creatinine conce... OMIM:235400
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Intrauterine growth retardation, Hypospadias, Microcephaly, Hydroce... ORPHA:2075
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation, Abnormality of the kidney, Disp... ORPHA:2655
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Postnatal growth retardat... OMIM:304050
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Hydrocephalus, Enlarged kidney OMIM:314390
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Agenesis of corpus callosum, Enuresis, Tubulointerstitial nephritis, S... ORPHA:459061
Dandy-Walker Malformation With Postaxial Polydactyly
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydroceph... OMIM:220220
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Growth delay, Cerebral atrophy, Hyperbilirubinemia, Absence of renal corticomedulla... OMIM:259720
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Short stature, Abnormality of the kidney ORPHA:93274
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum OMIM:307000
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:304100
Trisomy 1Q
Agenesis of corpus callosum, Congenital megaureter, Ventriculomegaly, Multicystic kidney dysplasi... ORPHA:261344
Czeizel-Losonci Syndrome
Spina bifida, Congenital megaureter, Abnormality of the urinary system, Hydronephrosis, Spina bif... ORPHA:2437
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pachygyria, Micropenis, Polycystic kidney dysplasia, Dilation of lateral ventricles OMIM:263520
Marden-Walker Syndrome
Renal agenesis, Agenesis of corpus callosum, Hydrocephalus, Hydroureter, Absent septum pellucidum... ORPHA:2461
Multiple Sulfatase Deficiency
Abnormal periventricular white matter morphology, Mucopolysacchariduria, Ventriculomegaly, Cerebr... OMIM:272200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Congenital Disorder Of Glycosylation, Type Iim
Hypoplasia of the corpus callosum, Cerebral atrophy, Ureteropelvic junction obstruction, Neonatal... OMIM:300896
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebral atrophy, Ataxia, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis OMIM:615398
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Abnormal periventricular white matter morphology, Gait disturbance, Ventriculomegaly, A... ORPHA:395
Urban-Rogers-Meyer Syndrome
Short stature, Hypoplasia of penis, Abnormality of the ureter ORPHA:3409
Bardet-Biedl Syndrome 17
Renal cyst, Stage 5 chronic kidney disease OMIM:615994
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:261102
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Abnormal brainstem morphology, Hydrocephalus, Dandy-Walker malformation, Abnorm... ORPHA:163961
Hemangioblastoma
Neurogenic bladder, Hydrocephalus ORPHA:252054
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis OMIM:274210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Polymicrogyria, Leukoencephalopathy, Elevated circulating creatine kinase ... OMIM:615181
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Steppage gait, Hydrocephalus, Inability to walk by childhood/adolescence ORPHA:99947
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related