Gene Summary

Name:
myosin IXa
Synonyms:
4732465J09Rik,  C130068I12Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 50% (1 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote Ambiguous
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

DSS Histology

Images

6 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

Eye Morphology

Images Slit Lamp

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 81 images

View all 6 images

Human diseases caused by Myo9a mutations

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

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

The table below shows human diseases associated to Myo9a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Presynaptic Congenital Myasthenic Syndromes
Ataxia, Seizure, Tip-toe gait, Waddling gait, Difficulty walking ORPHA:98914
Myasthenic Syndrome, Congenital, 24, Presynaptic
Oculomotor apraxia OMIM:618198

The table below shows human diseases predicted to be associated to Myo9a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 24
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619263
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Mesangial hypercellularity, Proteinuria, Steroid-resistant neph... OMIM:619201
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Nephrotic Syndrome, Type 17
Proteinuria, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 chronic kidney ... OMIM:618176
Focal Segmental Glomerulosclerosis 9
Nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hematuria, Protei... OMIM:613237
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Focal ... OMIM:614131
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:615573
Lipoprotein Glomerulopathy
Renal insufficiency, Glomerulopathy, Proteinuria, Mesangial hypercellularity OMIM:611771
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Renal insufficiency, Focal segme... OMIM:256370
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Hematuria, Steroid-resistant nephrotic syndrome, Stage 5 chronic kid... OMIM:616892
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614650
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Megalencephaly, Ventriculomegaly, Hydrocephalus OMIM:615938
Nephrotic Syndrome, Type 2
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:600995
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Foc... OMIM:610725
Ribose 5-Phosphate Isomerase Deficiency
Incoordination, Increased level of ribitol in CSF, Decreased level of erythritol in urine, Increa... OMIM:608611
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614196
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Gait disturbance OMIM:611808
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Glomerular sclerosis, Nephrotic syndrome, Thickened glomerular ... OMIM:619155
Alexander Disease
Increased CSF protein, Ataxia, Hydrocephalus OMIM:203450
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Focal Segmental Glomerulosclerosis 1
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:603278
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicro... OMIM:615937
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Pineocytoma
Hydrocephalus, Episodic ataxia, Increased CSF protein, Difficulty walking ORPHA:251912
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Microscopic hematuria, Nephropathy, Renal insuff... OMIM:137950
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Ataxia, Microcephaly, Cortical dysplasia, ... OMIM:618709
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria OMIM:617609
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Hematuria, Proteinuria, Renal tubular atrophy, Focal segmental glomeruloscler... OMIM:618349
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephropathy, Renal insufficiency, Focal segmenta... OMIM:254900
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Stage 5 chr... OMIM:616818
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical atrophy, Subcortical cerebral atrophy, Cerebral cortical hemiatrophy, Hydroceph... ORPHA:2703
Dandy-Walker Syndrome
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydroceph... OMIM:220200
Fanconi Anemia, Complementation Group R
Microcephaly, Growth delay, Hydrocephalus OMIM:617244
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria OMIM:614199
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:614455
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, St... OMIM:618594
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Dilation of lateral ventricles, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Frasier Syndrome
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:136680
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:613944
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency ORPHA:69063
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Holoprosencephaly 5
Semilobar holoprosencephaly, Central diabetes insipidus, Holoprosencephaly, Lobar holoprosencepha... OMIM:609637
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callo... OMIM:604213
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Microscopic... OMIM:601894
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Band Heterotopia
Agenesis of corpus callosum, Ventriculomegaly, Subcortical band heterotopia, Hydrocephalus, Polym... OMIM:600348
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Polymicrogyri... OMIM:617730
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Pachygyria, Stage 5 chronic kidney disease OMIM:617731
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Status epilepticus, Proteinuria OMIM:614652
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria OMIM:617006
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Scissor gait, Diffuse cerebral atrophy ORPHA:363654
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Paraplegia, Spasticity, Nephropathy, Gait disturbance ORPHA:2820
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Polymicrogyria, Stage 5 chronic kidney dis... OMIM:301006
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Polymicrogyria OMIM:300982
L1 Syndrome
Hydrocephalus, Aqueductal stenosis, Gait disturbance ORPHA:275543
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Foamy urine, Stage 5 chronic ki... ORPHA:656
Atypical Teratoid Rhabdoid Tumor
Cerebral calcification, Ataxia, Hydrocephalus ORPHA:99966
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Absent septum pellucidum, Aqueductal stenosis, Agenesis of corpus callosum, Hydrocephalus OMIM:307000
Renal Failure, Progressive, With Hypertension
Proteinuria, Nephritis, Microscopic hematuria, Renal insufficiency, Stage 5 chronic kidney disease OMIM:161900
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Thin glomer... OMIM:615244
Masa Syndrome
Agenesis of corpus callosum, Shuffling gait, Ventriculomegaly, Microcephaly, Short stature, Hydro... OMIM:303350
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueduct... ORPHA:2182
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Cerebral atrophy, Microcephaly, Intrauterine growth retardation OMIM:614023
Hemiparkinsonism-Hemiatrophy Syndrome
Dilation of lateral ventricles, Difficulty walking, Cerebral cortical hemiatrophy ORPHA:306669
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, R... OMIM:616730
Martsolf Syndrome 2
Short stature, Microcephaly, Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:619420
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:161950
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Atrophy/Degeneration affecting the brainstem, Progressive microcephaly, Ataxia, Ventriculomegaly,... OMIM:617862
Masa Syndrome
Agenesis of corpus callosum, Short stature, Ventriculomegaly, Gait disturbance ORPHA:2466
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Microcephaly, Diffuse cer... ORPHA:77299
C3 Glomerulopathy 3
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency OMIM:614809
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Glomerular sclerosis, Congenital nephrotic syndrome, Proteinuria, Re... OMIM:256300
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Aqueductal stenosis, Ventriculomegaly OMIM:600907
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Abnormal glomerular mesangium morphology, Proteinuria, G... ORPHA:567544
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Hypoplasia of the pons, Dandy-Walker malformation, Microcephaly, Spi... OMIM:618736
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Abnormal glomerular visceral epith... ORPHA:567548
Joubert Syndrome 31
Truncal ataxia, Molar tooth sign on MRI, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:617761
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:616816
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Intrauterine growth retardation, Basal ganglia cysts, Agenesis of corpus callos... ORPHA:79243
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Ventriculomegaly, Ataxia, Unsteady gait, Hypoplasia of the brainstem, Short st... OMIM:618273
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Focal segmental glomerulosclerosis, Nephropathy OMIM:617056
Preeclampsia/Eclampsia 1
Seizure, Proteinuria OMIM:189800
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:608709
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Central Neurocytoma
Cerebral calcification, Ataxia, Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Intrauterine growth retardation, Agenesis of corpus callosum, Hydranencephaly, Ventriculomegaly, ... OMIM:225790
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Molar tooth sign on MRI, Anencephaly, Ventriculomegaly, Hydrocephalus OMIM:614120
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Proteinuria, Glomerulopathy, Micros... ORPHA:84090
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Inability to walk, Ventriculomegaly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral hy... OMIM:617977
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephroblastoma, Renal insufficiency, Focal segme... ORPHA:347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Hypoplasia of ... OMIM:613154
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Renal cortical hyperech... OMIM:611555
Alg2-Cdg
Hyperintensity of cerebral white matter on MRI, Microcephaly, Abnormal basal ganglia MRI signal i... ORPHA:79326
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Dysgyria, Hypoplasia of the brainstem, Hydrocephalus, Type II lissenceph... ORPHA:352682
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Microcephaly, Gait disturbance ORPHA:26
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Growth delay, Abnormal lateral ventricle morphology, Gait ataxia... ORPHA:488635
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Reduced amygdala volume, Hypoplastic hippocampus, Microcephaly, Partial agenesis of the corpus ca... OMIM:619517
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal insufficiency OMIM:613779
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:618890
Diaminopentanuria
Cystinuria, Hyperlysinuria, Ataxia, Spasticity, Seizure OMIM:222350
Cach Syndrome
Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Dysmetria, Cerebral atrop... ORPHA:135
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Ventriculomegaly, Hydrocephalus OMIM:602200
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Agenesis of corpus callosum, Ventriculomegaly, Ataxia, Partial agenesis of the ... ORPHA:1136
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Spastic gait, Difficulty walking, Hypoplasia of the corpus callosum ORPHA:401815
Kleeblattschaedel
Hydrocephalus OMIM:148800
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, R... OMIM:618348
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Decreased glomerular fil... ORPHA:730
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Microcephaly, Simplified gyral pattern, Periventricular white matter hyperintensities, Hydrocepha... OMIM:619470
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Small cerebral cortex, Ventriculomegaly, Lissencephaly,... ORPHA:2185
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Galactosemia I
Aminoaciduria, Increased level of galactitol in urine, Galactosuria, Albuminuria OMIM:230400
Frontal Encephalocele
Cerebral calcification, Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, E... ORPHA:1931
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainste... ORPHA:250972
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:618347
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria OMIM:614173
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Hematuria, Proteinuria, Tubulointerstitial nephritis, Stage 5 chron... OMIM:614817
Papillary Tumor Of The Pineal Region
Hydrocephalus, Episodic ataxia, Increased CSF protein, Difficulty walking ORPHA:251915
Alport Syndrome
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Prot... ORPHA:63
Pontocerebellar Hypoplasia, Type 13
Hypoplastic hippocampus, Inability to walk, Gait ataxia, Dandy-Walker malformation, Microcephaly,... OMIM:618606
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dilati... OMIM:617751
Gómez-López-Hernández Syndrome
Short stature, Ataxia, Abnormal brainstem morphology, Hydrocephalus ORPHA:1532
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Micropenis, Stage 5 chronic kidney ... OMIM:617575
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... ORPHA:93101
Lissencephaly 5
Hypoplasia of the corpus callosum, Occipital encephalocele, Porencephalic cyst, Subcortical band ... OMIM:615191
Combined Oxidative Phosphorylation Defect Type 39
Atrophy/Degeneration affecting the brainstem, Abnormal corpus callosum morphology, Cerebral atrop... ORPHA:565624
Fried Syndrome
Hydrocephalus, Cerebral calcification, Gait disturbance ORPHA:85335
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Multifocal cerebral white matter a... ORPHA:488627
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria ORPHA:839
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Hematuria, Mesangial hypercellula... ORPHA:329918
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Tonic seizure, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, H... OMIM:619428
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Aqueductal stenosis, Agenesis of corpus callosum ORPHA:1496
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus, Gait disturbance OMIM:236690
Bilateral Generalized Polymicrogyria
Abnormal hippocampus morphology, Hypoplastic hippocampus, Growth delay, Microcephaly, Short statu... ORPHA:208447
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Primary microcephaly, Simplified gyral pattern, Lissencephaly, H... ORPHA:284417
Slc35A2-Cdg
Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Intrauterine growth retardation, ... ORPHA:356961
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles OMIM:619278
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Developmental And Epileptic Encephalopathy 49
Cerebral calcification, Ventriculomegaly, Dandy-Walker malformation, Microcephaly, Hydrocephalus OMIM:617281
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Abnormal hippocampus morphology, Leukoencephalopathy, Bilateral generalized pol... ORPHA:178469
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Dilation of lateral ventricles, Growth delay ORPHA:85290
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Hydrocephalus OMIM:300884
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria ORPHA:220
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Cerebral calcification, Severe short stature, Ventriculomegaly, Ataxia, Decreased response to gro... OMIM:225755
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Macroscopic hematuria, Albuminuria, Microscopic hematuria, Stage 5 chroni... ORPHA:567546
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Simplified gyral patt... OMIM:619609
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:304100
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
D-2-Hydroxyglutaric Aciduria 1
Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, Subependymal cysts OMIM:600721
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Spastic gait, Dilated third ventricle, Partial agenesis of the corpus callosum,... OMIM:617296
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Hypoplasia of the corpus callosum, Abnormality of the basal gangli... ORPHA:300570
Pettigrew Syndrome
Cerebral calcification, Abnormality of the basal ganglia, Ventriculomegaly, Gait ataxia, Dandy-Wa... OMIM:304340
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Ethmoidal encephalocele, Abnormal corpus callosum morphology, Abnorma... ORPHA:280195
Malan Overgrowth Syndrome
Ventriculomegaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Dilation of lat... ORPHA:420179
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Glomerular sclerosis, Nephrotic syndrome OMIM:607426
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Type II lissencephaly, Ventriculomegaly, Hydrocephalus ORPHA:324416
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Abnormal corpus callosum morphology, Periventricular cysts, Abnormality of the ... ORPHA:255182
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Cednik Syndrome
Nephrotic syndrome, Ataxia, Seizure, Proteinuria ORPHA:66631
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
Biemond Syndrome Type 2
Short stature, Delayed puberty, Hydrocephalus ORPHA:141333
Imerslund-Grasbeck Syndrome 1
Paresthesia, Somatic sensory dysfunction, Proteinuria OMIM:261100
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum, Molar tooth sign on MRI, Ventriculomegaly OMIM:617127
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Nephropathy, Stage 5 chronic kid... OMIM:194080
Amyloidosis, Familial Visceral
Nephrotic syndrome, Nephropathy, Hematuria, Proteinuria OMIM:105200
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral atrophy, Dysmetria, Intrauterine growth retardation, Dilated fourth ventricle, Athetosis... ORPHA:572798
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Ataxia, Lissencephaly, Pachygyria, Postnatal growth retardation OMIM:300067
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Agenesis of corpus callosum, Dilated third ventricle, Leukoencephalopathy, Micr... OMIM:619244
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Dilated fourth ventricle, Dandy-Walker malformation, Microce... ORPHA:3078
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Acute kidney injury, Proteinuria, Decreased glomerular filtration rate, Glo... ORPHA:93126
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Acquired Partial Lipodystrophy
Glomerulopathy, Seizure, Microscopic hematuria, Proteinuria ORPHA:79087
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Aqueductal stenosis, Ventriculomegaly OMIM:600906
1Q21.1 Microduplication Syndrome
Hydrocephalus, Seizure, Hypospadias, Hypertonia ORPHA:250994
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria OMIM:314000
Glutamine Deficiency, Congenital
Decreased CSF glutamine concentration, Dilation of lateral ventricles, Subependymal cysts, Hypopl... OMIM:610015
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Cerebral calcification, Aqueductal stenosis, Intrauterine growth retardation ORPHA:3035
Achondroplasia
Neonatal short-limb short stature, Rhizomelia, Brain stem compression, Megalencephaly, Hydrocephalus OMIM:100800
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Secondary micro... OMIM:615599
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Frontal encephalocele, Microcephaly, Lissence... ORPHA:1528
Aicardi-Goutieres Syndrome 4
Cerebral calcification, Cerebral atrophy, Progressive microcephaly, Intrauterine growth retardati... OMIM:610333
Autosomal Recessive Spastic Paraplegia Type 11
Hypoplasia of the corpus callosum, Abnormal substantia nigra morphology, Hyperintensity of cerebr... ORPHA:2822
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Reduced renal corticomedullary differentiation, Decreased glomerular filtration rate, Global glom... OMIM:602522
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Type II lissencephaly, Ventriculomegaly, Dandy-Walker malformation, Hypoplasia of the bra... OMIM:613153
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Photosensitive myoclonic seizure, Nephrotic syndrome, Proteinuria, Tremor, Nephropathy, Gait dist... ORPHA:1192
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Thickened glomerular basement membrane, Nephritis, Re... OMIM:203780
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:619603
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilation of lateral ventricles, Agenesis of corpus callosum OMIM:300952
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Ataxia, Glomerulopathy, Proteinuria ORPHA:225
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Hypoplasia of the brainstem, Partial agenesis of the corpus callosum... OMIM:619302
Central Precocious Puberty
Proportionate short stature, Hypothalamic hamartoma, Increased circulating gonadotropin level, Hy... ORPHA:759
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Microcephaly, Short stature, Decreased response to growth hormone s... OMIM:618160
Aapoaiv Amyloidosis
Glomerular sclerosis, Proteinuria, Chronic kidney disease, Renal amyloidosis, Renal interstitial ... ORPHA:439232
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Agenesis of corpus callosum, Molar tooth sign on MRI, Short stature, Hypoplasia... ORPHA:166024
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Intrauterine growth retardation, Arrhinencephaly ORPHA:1788
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Hsd10 Disease
Ventriculomegaly, Ataxia, Microcephaly, Gait disturbance, Postnatal growth retardation, Frontotem... ORPHA:391417
Sporadic Pheochromocytoma/Secreting Paraganglioma
Glomerular sclerosis, Elevated urinary dopamine, Hematuria, Proteinuria, Elevated urinary epineph... ORPHA:276621
Oxoglutaric Aciduria
Short stature, Ataxia, Hydrocephalus ORPHA:31
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Intrauterine growth retardation, Molar tooth sign on MRI, Anen... OMIM:611134
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Colpocephaly, Abnormality of the basal ganglia, Occipital en... ORPHA:397715
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Anterior encephalocele, Hydrocephalus OMIM:614195
Free Sialic Acid Storage Disease
Abnormal pyramidal sign, Nephrotic syndrome, Proteinuria, Athetosis, Ataxia, Spasticity, Gait dis... ORPHA:834
Congenital Muscular Dystrophy, Fukuyama Type
Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Gai... ORPHA:272
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Agyria, Abnormal caudate nucleus morphology, Cerebral white matter atrophy, Pachygyria, Hypoplasi... ORPHA:2148
Cog5-Cdg
Atrophy/Degeneration affecting the brainstem, Intrauterine growth retardation, Cerebral white mat... ORPHA:263487
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Simplified gy... OMIM:617729
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Secondary microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus ORPHA:397951
Nephronophthisis 18
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened glomerular basement membr... OMIM:615862
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Agenesis of corpus callosum, Intrauterine growth retardation, Growth delay, Hydro... OMIM:612863
Hydrocephalus With Associated Malformations
Intrauterine growth retardation, Hydrocephalus OMIM:236640
Phosphoglycerate Kinase 1 Deficiency
Seizure, Ataxia, Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Nephronophthisis 13
Nephronophthisis, Renal hypoplasia, Stage 5 chronic kidney disease, Mild proteinuria OMIM:614377
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Dilation of lateral ventricles, Lewy bodies, Cerebral cortical atrophy, Neurofibrillary tangles OMIM:607485
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dilated fourth ventricle, Dandy-Walker malformation, Hydrocephalus, Truncal ataxia, Posterior fos... OMIM:220219
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Proteinuria, Renal insufficiency, Seizure ORPHA:54057
Galloway-Mowat Syndrome
Intrauterine growth retardation, Microcephaly, Short stature, Pachygyria, Aqueductal stenosis ORPHA:2065
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Peroxisome Biogenesis Disorder 1A (Zellweger)
Frequent falls, Renal cortical microcysts, Hydronephrosis, Unsteady gait, Subependymal cysts, Ami... OMIM:214100
Joubert Syndrome 9
Molar tooth sign on MRI, Ventriculomegaly, Encephalocele OMIM:612285
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Periventricular leukomalacia, Hydrocephalus OMIM:618302
Distal 7Q11.23 Microduplication Syndrome
Frontal encephalocele, Hydrocephalus ORPHA:261102
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Hematuria, Acute ki... ORPHA:94088
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Tubulointerstitial fibrosis, Aminoaciduria, Stage 5 chronic kidney disease OMIM:618913
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Abnormal pyramidal sign, Spastic tetraparesis, Renal Fanconi syndrome, Renal tubular ... ORPHA:436271
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Hyperphosphaturia, Proteinuria OMIM:615605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Occipital encephalocele, Anencephaly, Ventriculomegaly, Dandy-Walker... OMIM:615287
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Microcephaly, Dilated third ventricle, Abnormal periventricular white matter morphology, Ataxia OMIM:619725
Fanconi Renotubular Syndrome 1
Glycosuria, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Renal insuffic... OMIM:134600
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria OMIM:123550
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria ORPHA:375
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Renal amyloidosis, Proteinuria OMIM:134610
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Short stature, Ataxia ORPHA:1861
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:183802
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Renal tubular dysfunction, Moderate albuminuria, Apraxia, Generalized myoclonic seizu... ORPHA:99885
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Joubert Syndrome 30
Dandy-Walker malformation, Molar tooth sign on MRI, Ventriculomegaly OMIM:617622
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Frequent falls, Somatic sensory dysfunction, Hand tremor, Impaired vibratory sensa... ORPHA:99947
Schimke Immunoosseous Dysplasia
Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:242900
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Umbilical hernia, Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:618914
Congenital Toxoplasmosis
Cerebral calcification, Intrauterine growth retardation, Ventriculomegaly, Microcephaly, Hydrocep... ORPHA:858
Pseudo-Torch Syndrome 2
Cerebral calcification, Ventriculomegaly, Microcephaly, Polymicrogyria, Dilation of lateral ventr... OMIM:617397
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical microcysts OMIM:613824
Neuraminidase Deficiency
Dysmetria, Urinary excretion of sialylated oligosaccharides, Proteinuria, Increased urinary O-lin... OMIM:256550
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Umbilical hernia, Gait disturbance ORPHA:2181
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormality of the kidney,... ORPHA:85445
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Dandy-Walker malformation, Hydrocephalus, Truncal ataxia, Posterior fos... OMIM:220220
Fechtner syndrome
Stage 5 chronic kidney disease, Nephritis, Hematuria, Proteinuria OMIM:153640
Joubert Syndrome 16
Dandy-Walker malformation, Molar tooth sign on MRI, Encephalocele OMIM:614465
Hereditary Pheochromocytoma-Paraganglioma
Glomerular sclerosis, Hematuria, Proteinuria, Elevated urinary dopamine, Elevated urinary epineph... ORPHA:29072
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Megalencephaly, Hydrocephalus ORPHA:83473
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Hydrocephalus ORPHA:2183
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Ventriculomegaly, Simplified gyral pattern, Lissencephaly OMIM:615219
Coach Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Intellectual Developmental Disorder, Autosomal Dominant 39
Cerebral atrophy, Thin corpus callosum, Hydrocephalus OMIM:616521
16P13.2 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Dilated third ventricle, Cerebral white matter atrophy, Ventri... ORPHA:500055
Distal Monosomy 10Q
Cavum septum pellucidum, Ataxia, Unsteady gait, Microcephaly, Short stature, Spina bifida occulta... ORPHA:96148
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Hydrocephalus, Polymicrogyria OMIM:602501
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Red-brown urine, Myoglobinuria, Renal tubular epithelial necrosis, ... ORPHA:228302
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Joubert Syndrome 7
Abnormal corpus callosum morphology, Molar tooth sign on MRI, Ataxia, Hypoplasia of the brainstem... OMIM:611560
Lcat Deficiency
Proteinuria, Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Stag... ORPHA:650
Igg4-Related Kidney Disease
Urinary bladder inflammation, Enlarged kidney, Abnormal ureter morphology, Hematuria, Proteinuria... ORPHA:449395
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria, Tip-toe gait, Falls, Difficulty walking ORPHA:98895
Aicardi-Goutieres Syndrome 9
Glomerular sclerosis, Proteinuria, Micropenis, Thickened glomerular basement membrane, Recurrent ... OMIM:619487
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Inability to walk, Bilateral renal atrophy, Renal insufficiency, Stage 5 chronic kid... OMIM:166300
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Focal segmen... OMIM:232200
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, At... OMIM:220110
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Cavum septum pellucidum, Ataxia, Unsteady gait, Dilation of ... ORPHA:457279
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele, Gait disturbance ORPHA:588
Preeclampsia
Acute kidney injury, Abnormality of the kidney, Chronic kidney disease, Proteinuria ORPHA:275555
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Decreased numbers of neph... ORPHA:2260
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcephaly, Dilation of later... ORPHA:293725
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Short stature, Hypoplasia of the corpus callosum, Hydrocephalus ORPHA:1516
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Renal insufficiency OMIM:610205
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Basal ganglia calcification OMIM:615361
Al Amyloidosis
Nephrotic syndrome, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits, ... ORPHA:85443
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Enlarged fossa interpeduncularis, Molar tooth sign on MRI... OMIM:610688
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Focal segmen... OMIM:232220
Chiari Malformation Type Ii
Myelomeningocele, Agenesis of corpus callosum, Ataxia, Spina bifida, Hydrocephalus, Cervical myel... OMIM:207950
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology, Ventriculomegaly, Dandy-Walker malformation, Abnormal cerebral cor... ORPHA:163961
Nasu-Hakola Disease
Cerebral calcification, Cerebral cortical atrophy, Ventriculomegaly, Hydrocephalus ORPHA:2770
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Seizure, Vesicour... ORPHA:261222
Pfeiffer Syndrome Type 1
Aqueductal stenosis ORPHA:93258
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Seizure, Ataxia, Proteinuria OMIM:603585
Temple Syndrome
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes... ORPHA:254516
Glutaric Acidemia I
Dilation of lateral ventricles OMIM:231670
Systemic Sclerosis
Acute kidney injury, Proteinuria, Glomerulonephritis, Chronic kidney disease, Abnormality of the ... ORPHA:90291
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Nephrotic syndrome, Proteinuria OMIM:215250
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Dilated third ventricle, Ataxia, ... ORPHA:314404
Orofaciodigital Syndrome Xvi
Ventriculomegaly, Molar tooth sign on MRI, Inability to walk, Ataxia OMIM:617563
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Agenesis of corpus callosum, Cavum septum pellucidum, Dilated third ventricle, ... ORPHA:464738
Intellectual Developmental Disorder, Autosomal Dominant 35
Gait ataxia, Intrauterine growth retardation, Ventriculomegaly, Hydrocephalus OMIM:616355
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612926
Schimke Immuno-Osseous Dysplasia
Proteinuria, Microscopic hematuria, Nephropathy, Nephrotic range proteinuria, Stage 5 chronic kid... ORPHA:1830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Polymicrogyria, Hydrocephalus, Hypoplasia of the pons, Leukoencephalopathy OMIM:615181
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Renal duplication, Hydronephrosis, Ureterocele, Renal dysplasia, Abnormalit... ORPHA:158684
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Proteinuria, Thickened glomerular basement membrane, Abnormal renal physiology, Nephro... OMIM:308940
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Periventricular cysts, Hyperintensity of cerebral white matter on MRI... ORPHA:544488
Aicardi Syndrome
Choroid plexus cyst, Cavum septum pellucidum, Dilated third ventricle, Dandy-Walker malformation,... OMIM:304050
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Renal insufficie... OMIM:276700
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI, Ataxia OMIM:617562
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Molar tooth sign on MRI, Ventriculomegaly, Hypoplasia of the corpus callos... OMIM:619479
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Nephrotic syndrome, Proteinuria, Renal tubular atrophy, Nephritis, Focal segment... OMIM:617303
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Nephropathy, Proteinuria ORPHA:247691
Osteopetrosis, Autosomal Recessive 7
Dilation of lateral ventricles, Growth delay, Hydrocephalus OMIM:612301
Kohlschutter-Tonz Syndrome-Like
Intrauterine growth retardation, Inability to walk, Ventriculomegaly, Ataxia, Microcephaly, Secon... OMIM:619229
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Short stature, Hypoplasia of the co... OMIM:218350
Glycogen Storage Disease Ic
Hematuria, Proteinuria, Decreased glomerular filtration rate, Renal insufficiency, Focal segmenta... OMIM:232240
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Abnormal brainstem morphology, Dilated fourth ventricle, Occipital encepha... ORPHA:370959
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Dilated third ventricle, Dilation of lateral ventricles, Hydrocephalus OMIM:619575
Adult Krabbe Disease
Abnormal pons morphology, Abnormal corpus callosum morphology, Increased CSF protein, Abnormal mi... ORPHA:206448
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Distal renal tubular acidosis, Chro... OMIM:146255
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Williams-Beuren Region Duplication Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Gait disturbance, Short stature, Hydrocephal... OMIM:609757
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Ventriculomegaly, Ataxia, Abnormal periventricular white matter morp... OMIM:618476
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Molar tooth sign on MRI, Ataxia, Elongated superior cerebellar ... OMIM:608629
Vacterl With Hydrocephalus
Intrauterine growth retardation, Spina bifida, Hydrocephalus, Aqueductal stenosis, Arrhinencephaly ORPHA:3412
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Homocystinuria, Spastic paraparesis, Generalized myoclonic seizure, Lower limb spa... ORPHA:395
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Waddling gait, Myoglobinuria, Broad-based gait, Difficulty walking ORPHA:119
Intellectual Developmental Disorder, Autosomal Dominant 36
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Inability to walk, Ventriculomega... OMIM:616362
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hypothalamic hamartoma, Anterior hypopituitarism, Hydrocephalus OMIM:241800
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Spastic tetraparesis, Micropenis, Renal hypoplasia, Hydrocephalus, Seizure, Hypos... ORPHA:171839
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, Hydrocephalus OMIM:618577
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Spastic tetraplegia, Hypospadias, Akinesia, Generalized tonic seizure, Decreased CSF biopterin le... OMIM:619147
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Nephropathy, Proteinuria OMIM:209010
Alexander Disease
Cerebral calcification, Agenesis of corpus callosum, Ataxia, Gait disturbance, Megalencephaly, Hy... ORPHA:58
Amelocerebrohypohidrotic Syndrome
Short stature, Hydrocephalus ORPHA:1946
Ddost-Cdg
Nephrotic range proteinuria, Seizure, Oromotor apraxia, Tremor ORPHA:300536
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Agenesis of corpus callosum, Hydrocephalus ORPHA:380
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Proteinuria, Macroscopic hematuria, Membranoproliferative glomerulonephritis, Pa... ORPHA:251004
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Renal corticomedullary cysts, Hydrocephalus, Renal insufficiency, Seizure OMIM:219730
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria ORPHA:182050
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Abnormal cerebral white matter morphology, Hydrocephalus OMIM:600991
6P22 Microdeletion Syndrome
Hydronephrosis, Hydrocephalus ORPHA:251046
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Agenesis of corpus callosum, Short stature, Ventriculomegaly, Hydrocephalus OMIM:109120
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis, Paroxysmal nocturnal hemoglobinuria, Increased CSF protein OMIM:612300
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Abnormal renal physiology OMIM:223900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Renal hypoplasia, Glomerulonephritis, Chronic tubulointerstitial nephritis, Stage 5 ... OMIM:614376
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Proteinuria, Thickened glomerular basement membrane, Nephritis, Microscopic h... OMIM:301050
Hypouricemia, Renal, 1
Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Increased urinary urate, Acute kidn... OMIM:220150
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Temple Syndrome
Short stature, Intrauterine growth retardation, Hydrocephalus OMIM:616222
Actinic Prurigo
Glomerulonephritis OMIM:174770
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninuria, Homocystinuria, Hydrocephalus, Methylmalonic aciduria, Hemolytic-uremic syndrom... OMIM:277400
Meckel Syndrome, Type 10
Occipital encephalocele, Molar tooth sign on MRI, Anencephaly OMIM:614175
Intellectual Developmental Disorder, X-Linked 30
Microcephaly, Short stature, Hydrocephalus OMIM:300558
Bainbridge-Ropers Syndrome
Intrauterine growth retardation, Inability to walk, Growth delay, Microcephaly, Hypoplasia of the... OMIM:615485
Optic Pathway Glioma
Growth delay, Hydrocephalus ORPHA:2086
Noonan Syndrome 14
Short stature, Dilation of lateral ventricles OMIM:619745
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Nephrocalcinosis, Proteinuria, Hyperphosphaturia, Aminoaciduria OMIM:616026
Joubert Syndrome 27
Molar tooth sign on MRI, Ataxia OMIM:617120
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Hydrocephalus ORPHA:398189
Aminopterin/Methotrexate Embryofetopathy
Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Spinal d... ORPHA:1908
Aase-Smith Syndrome I
Dandy-Walker malformation, Hydrocephalus OMIM:147800
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly OMIM:618731
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria OMIM:602199
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Pachygyria, Renal insufficiency, Fo... OMIM:251300
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Short stature, Intrauterine growth retardation, Hydrocephalus OMIM:300863
Cystinosis
Abnormal pyramidal sign, Renal tubular dysfunction, Proteinuria, Motor stereotypy, Aminoaciduria,... ORPHA:213
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Intrauterine growth retardation, Agenesis of corpus callosum, Hydrocephalus OMIM:612940
Multiple Sulfatase Deficiency
Cerebral atrophy, Increased CSF protein, Ventriculomegaly, Ataxia, Short stature, Abnormal perive... OMIM:272200
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Athetosis, Ataxia, Chronic kidney disease, Seizure, Ventriculomegaly... ORPHA:25
Joubert Syndrome 14
Growth delay, Ataxia, Dandy-Walker malformation, Hydrocephalus, Encephalocele OMIM:614424
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Myoglobinuria, Ataxia, Tremor ORPHA:713