Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1
sodium-hydrogen exchanger regulatory factor,  NHE-RF,  NHERF1,  EBP-50

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc9a3r1 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 Slc9a3r1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Renal phosphate wasting, Hyperphosphaturia, Increased susceptibility to fractures, ... OMIM:612287

The table below shows human diseases predicted to be associated to Slc9a3r1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Renal phosphate wasting, Hyperphosphaturia, Hypercalciuria, Increased susceptibilit... OMIM:612286
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Renal phosphate wasting, Hyperphosphaturia, Increased susceptibility to fractures, ... OMIM:612287
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Dent Disease 1
Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, Proximal t... OMIM:300009
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Rickets, Aminoaciduria, Glycosuria, Proteinuria OMIM:615605
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Hypophosphatemic rickets, Hypercalciuria, Reduced bone mineral density, Osteom... ORPHA:157215
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Dent Disease
Hematuria, Hypercalciuria, Chronic kidney disease, Thin bony cortex, Delayed epiphyseal ossificat... ORPHA:1652
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Generalized osteoporosis, Osteopenia, Nep... ORPHA:99879
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Rickets, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria OMIM:616026
Alexander Disease
Increased CSF protein, Hydrocephalus, Ataxia OMIM:203450
Wilson Disease
Osteoporosis, Joint hypermobility, Dystonia, Hyperphosphaturia, Aminoaciduria, Glycosuria, Hyperc... OMIM:277900
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis OMIM:123155
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251912
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Idiopathic Hypercalciuria
Osteoporosis, Renal calcium wasting, Calcium oxalate nephrolithiasis, Hypercalciuria, Osteopenia ORPHA:2197
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hyperphosphaturia ORPHA:89937
Fanconi-Bickel Syndrome
Hyperphosphaturia, Rickets, Generalized aminoaciduria, Nephropathy, Glycosuria, Renal tubular aci... ORPHA:2088
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Low-molecular-weight proteinuria, Rickets, Hypophosphatemic rickets, Pro... OMIM:300554
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, Renal potassium was... ORPHA:18
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalciuria, Pathologic fracture, Waddling gait, Hip contracture, Knee flex... OMIM:156400
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Increased CSF lactate, Gait disturbance, Aminoaciduria, Ataxia, Glycosuria, Re... ORPHA:436271
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Jejunitis, Villous atrophy, Protein-losing enter... ORPHA:398063
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Atypical Teratoid Rhabdoid Tumor
Limitation of joint mobility, Hydrocephalus, Ataxia ORPHA:99966
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Osteomalacia, Renal phosphate wasting OMIM:193100
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Increased CSF lactate, Aminoaciduria, Ataxia, Glycosuria, Renal Fanconi syndro... OMIM:220110
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia, Gait disturbance, Fibrous dysplasia of the bones, Pat... ORPHA:352540
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Gait disturbance, Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Glycosuria, Osteomalacia, Renal tubular dysfunction OMIM:227810
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Attention deficit hyperactivity disorder, Hydrocephalus, Ataxia OMIM:618709
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Craniosynostosis, Elbow ankylosis, Hydrocephalus OMIM:148800
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Craniosynostosis, Abnormality of renal excretion, Abnormal trabecular bo... ORPHA:289176
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation ORPHA:2978
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Familial Parathyroid Adenoma
Calcium nephrolithiasis, Renal insufficiency, Hyperphosphaturia, Recurrent fractures, Hypercalciu... ORPHA:99877
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Mccune-Albright Syndrome
Renal phosphate wasting, Hyperphosphaturia, Irregular menstruation, Recurrent fractures, Decrease... ORPHA:562
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis OMIM:616963
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Difficulty walking, Rickets, Hypophosphatemic rickets, Recurrent fractur... OMIM:241530
Hypophosphatemic Rickets
Renal phosphate wasting, Hyperphosphaturia, Hypocalciuria, Rickets, Craniofacial osteosclerosis, ... ORPHA:437
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hyperphosphaturia, Hypophosphatemic rickets, Recurrent fractures, Osteopenia OMIM:163200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Dandy-Walker Syndrome
Dilated fourth ventricle, Truncal ataxia, Hydrocephalus OMIM:220200
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Diarrhea 2, With Microvillus Atrophy
Villous atrophy, Abnormal intestine morphology OMIM:251850
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acid... ORPHA:3337
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Pancreatic Lipase Deficiency
Fat malabsorption, Hypolipidemia, Steatorrhea OMIM:614338
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Recurrent fractures, Polyuria, Aminoaciduria, Hypercalciuria OMIM:239200
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, Aminoaciduria, Glycosuria, Abnormal... ORPHA:411629
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy, Hydrocephalus ORPHA:26
Fanconi Renotubular Syndrome 2
Renal insufficiency, Rickets, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hyperc... OMIM:613388
Hypophosphatemia, Hypokalemia, Malabsorption ORPHA:213
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Developmental And Epileptic Encephalopathy 36
Flexion contracture, Hydrocephalus OMIM:300884
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
1Q21.1 Microduplication Syndrome
Hypospadias, Arthrogryposis multiplex congenita, Hydrocephalus, Attention deficit hyperactivity d... ORPHA:250994
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Ileitis, Protein-losing enteropathy, Pancolitis, Gastritis, Abnormal int... OMIM:619079
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Abnormal intestine morphology, Decreased circu... ORPHA:171851
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Joint laxity, Hydrocephalus OMIM:236660
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Lowe Oculocerebrorenal Syndrome
Joint hypermobility, Camptodactyly of finger, Hyperphosphaturia, Rickets, Ventriculomegaly, Amino... OMIM:309000
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Peptic ulcer OMIM:600740
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Hydrocephalus ORPHA:141333
Masa Syndrome
Ventriculomegaly, Hydrocephalus, Shuffling gait OMIM:303350
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Abnormal peristalsis, Intestinal malrotation, Steatorrhea, Con... OMIM:615237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Flexion contracture, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Hypophosphatemic rickets, Osteomalacia, Renal tubular dysfunction, Osteo... OMIM:307800
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Pettigrew Syndrome
Gait ataxia, Ventriculomegaly, Flexion contracture, Hydrocephalus, Dandy-Walker malformation OMIM:304340
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Fructose Intolerance, Hereditary
Lethargy, Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Bicarbonaturia, Glyco... OMIM:229600
Hypomagnesemia, Seizures, And Mental Retardation 2
Ventriculomegaly, Renal potassium wasting, Polyuria, Renal magnesium wasting, Hyperactivity OMIM:618314
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Papillary Tumor Of The Pineal Region
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251915
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Fried Syndrome
Gait disturbance, Hydrocephalus ORPHA:85335
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Abnormal cortical bone morphology, Coa... ORPHA:2635
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly, Bone cyst, Reduced bone mineral density, Limitation of joint mob... ORPHA:2770
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Hydrocephalus, Normal-Pressure, 1
Urinary incontinence, Gait disturbance, Normal pressure hydrocephalus OMIM:236690
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Gómez-López-Hernández Syndrome
Hydrocephalus, Ataxia ORPHA:1532
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia, Cleft palate OMIM:614207
Limited elbow extension, Limited hip extension, Hydrocephalus, Generalized joint laxity OMIM:100800
Irida Syndrome
Abnormal intestine morphology, Decreased circulating copper concentration ORPHA:209981
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Ventriculomegaly, Flexion contracture, Hydranencephaly, Hydrocephalus, Dandy-Walker mal... OMIM:225790
Neural Tube Defects, Susceptibility To
Anencephaly, Urinary incontinence, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:182940
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Peptic ulcer, Hypercalcemia, Infantile hypercalcemia, Hy... ORPHA:405
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
East Syndrome
Inability to walk, Difficulty walking, Enuresis, Ataxia, Renal salt wasting, Renal sodium wasting... ORPHA:199343
Cole-Carpenter Syndrome 1
Orbital craniosynostosis, Hydrocephalus, Recurrent fractures, Coronal craniosynostosis, Osteopeni... OMIM:112240
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
X-Linked Hypophosphatemia
Renal phosphate wasting, Craniosynostosis, Hypocalciuria, Rickets, Generalized osteosclerosis, En... ORPHA:89936
Primary Parathyroid Hyperplasia
Hypophosphatemia, Dysphagia, Peptic ulcer, Hypercalcemia ORPHA:99878
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Vacterl Association With Hydrocephalus
Radial club hand, Stillbirth, Renal hypoplasia, Aqueductal stenosis, Hydrocephalus OMIM:276950
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Hydrocephalus OMIM:612247
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Enamel-Renal Syndrome
Impaired renal concentrating ability, Hypocalciuria, Enuresis, Nephropathy, Renal insufficiency, ... ORPHA:1031
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Craniotelencephalic Dysplasia
Arrhinencephaly, Craniosynostosis, Hydrocephalus ORPHA:1528
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Central Neurocytoma
Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Lethargy ORPHA:73256
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:183802
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, CSF lymphocytic pleiocytosis, Hydrocephalus, Dystonia OMIM:610333
Infantile Sialic Acid Storage Disease
Osteopenia, Hydrocephalus, Nephrotic syndrome OMIM:269920
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypercalciuria, Nephrocalcinosis, Distal renal tubular acidosis OMIM:602722
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:261102
Craniofacial Dyssynostosis
Craniosynostosis, Hydrocephalus ORPHA:1516
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Gait disturbance, Ventriculomegaly, Flexion contracture, Hydrocephalus ORPHA:272
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Hematochezia, Rectal prolapse, Hypokalemia, Duodenal ad... OMIM:174900
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Abnormal urine p... ORPHA:411634
Oxoglutaric Aciduria
Hydrocephalus, Ataxia, Abnormal urine alpha-ketoglutarate concentration ORPHA:31
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Joint laxity, Ventriculomegaly, Nephroblastoma, Hydrocephalus OMIM:602501
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Pontocerebellar Hypoplasia, Type 15
Dystonia, Hydrocephalus OMIM:619302
Albers-Schönberg Osteopetrosis
Hydrocephalus, Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Osteoar... ORPHA:53
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Steppage gait, Flexion contracture, Hydrocephalus, Inability to walk by childhood/adolescence ORPHA:99947
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ventriculomegaly, Ectopic kidney, Renal agenesis, Ureteral duplication, Hydroce... OMIM:602200
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Hydrocephalus ORPHA:2183
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Camptodactyly of toe, Ventriculomegaly, Joint contracture of the hand, Hypospad... OMIM:175700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Joint hyperflexibility, Gait disturbance, Hydrocephalus ORPHA:2181
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Renal agenesis, Radioulnar synostosis, Renal hypoplasia, Hypospadias, Micropeni... ORPHA:171839
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Hydrocephalus, Joint hypermobility OMIM:612940
Hydrolethalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:614120
Sanjad-Sakati Syndrome
Hypocalcemia, Intestinal obstruction, Hyperphosphatemia ORPHA:2323
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:324416
Raine Syndrome
Hypophosphatemia, High palate, Cleft palate, Protruding tongue OMIM:259775
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Dysphagia, Peptic ulcer, Hypercalcemia, Infantile hypercalcemia ORPHA:99880
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Functioning Gonadotropic Adenoma
Osteoporosis, Abnormality of the menstrual cycle, Infertility, Amenorrhea, Oligospermia, Impotenc... ORPHA:91348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Anencephaly, Renal dysplasia, Renal cyst, Hydronephrosis, Micropenis, Hydroceph... OMIM:615287
Parathyroid Carcinoma
Hypophosphatemia, Dysphagia, Peptic ulcer, Hypercalcemia, Infantile hypercalcemia ORPHA:143
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Hydrocephalus OMIM:300886
Temple Syndrome
Joint hypermobility, Flexion contracture, Hydrocephalus OMIM:616222
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Hydrocephalus ORPHA:380
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Ventriculomegaly, Hydrocephalus, Ataxia OMIM:618476
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Truncal ataxia, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Joint stiffness, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Reduced sperm motility, Recurrent urinar... ORPHA:730
Chromosome 17P13.1 Deletion Syndrome
Joint laxity, Elbow flexion contracture, Hydrocephalus, Knee flexion contracture OMIM:613776
Hypophosphatemia OMIM:258480
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Mental Retardation, Autosomal Dominant 36
Inability to walk, Joint hypermobility, Ventriculomegaly, Hydrocephalus OMIM:616362
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Hyperuricemia ORPHA:469
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Joint laxity, Hypocalciuria, Osteopenia, Hypophosphaturia, Attention deficit hyperactivity disorder ORPHA:73223
Thanatophoric Dysplasia Type 2
Abnormality of the kidney, Holoprosencephaly, Ventriculomegaly, Joint hyperflexibility, Limitatio... ORPHA:93274
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Hypophosphatemic rickets, Abnormal calcification of the carpal bones, Recurren... ORPHA:51608
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Unilambdoid synostosis, Ventriculomegaly, Hydrocephalus OMIM:618577
Intussusception OMIM:147710
Hereditary Mixed Polyposis Syndrome
Rectal polyposis, Neoplasm of the gastrointestinal tract, Adenocarcinoma of the colon, Hematochez... ORPHA:157794
L1 Syndrome
Gait disturbance, Hydrocephalus, Aqueductal stenosis ORPHA:275543
Methylcobalamin Deficiency Type Cble
Osteoporosis, Lethargy, Ventriculomegaly, Glomerulopathy, Hemolytic-uremic syndrome, Hydrocephalus ORPHA:2169
Mental Retardation, Buenos Aires Type
Hypospadias, Spastic gait, Abnormality of the urinary system, Hydrocephalus OMIM:249630
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Polyuria, R... OMIM:248250
47,Xyy Syndrome
Azoospermia, Oligospermia, Hyperactivity, Hypospadias, Male infertility, Micropenis, Hydrocephalu... ORPHA:8
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Camptodactyly, Enuresis, Tubulointerstitial nephritis, Sagittal craniosynostosis, ... ORPHA:459061
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Median cleft lip and palate, Dysphagia, Steatorrhea, Hypokalemia,... ORPHA:699
6P22 Microdeletion Syndrome
Hydronephrosis, Hydrocephalus ORPHA:251046
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pathologic fractu... OMIM:259700
Thanatophoric Dysplasia
Abnormality of the kidney, Joint hyperflexibility, Ventriculomegaly, Joint stiffness, Hydrocephalus ORPHA:2655
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus ORPHA:352682
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Gait disturbance, Hydrocephalus ORPHA:588
Hypophosphatasia, Infantile
Nephrocalcinosis, Craniosynostosis, Elevated urine pyrophosphate, Stillbirth, Decreased calvarial... OMIM:241500
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Dysdiadochokinesis, Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Ataxia, Renal sal... OMIM:612780
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Bresek Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Renal dysplasia, Neonatal death, Vesicoureteral refl... ORPHA:85284
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal localization of kidney ORPHA:83473
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Ventriculomegaly, Hydrocephalus OMIM:617866
Radial Aplasia, X-Linked
Penile hypospadias, Hydrocephalus OMIM:312190
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation, Hyperactivity OMIM:300960
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Renal calcium wasting, Recurrent urinary tract infections, Hypercalciuria, Hypermagnesiuria, Chro... OMIM:248190
Bartter Syndrome, Type 3
Hypocalciuria, Renal potassium wasting, Polyuria, Increased urinary potassium, Renal salt wasting... OMIM:607364
Hypercalcemia, Infantile, 1
Lethargy, Polyuria, Hypercalciuria, Nephrocalcinosis, Nephrolithiasis OMIM:143880
Oculocerebral Hypopigmentation Syndrome, Preus Type
Reduced bone mineral density, Hydrocephalus, Ataxia, Abnormal renal tubule morphology ORPHA:2720
Hyperphosphatemia ORPHA:280062
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Flexion contracture of thumb, Hydrocephalus, Aqueductal stenosis OMIM:307000
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Narrow palate, Azoospermia, Gastroesophage... ORPHA:534
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Nephrocalcinosis, Renal magnesium wasting ORPHA:564178
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Hydrocephalus OMIM:601794
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Williams-Beuren Region Duplication Syndrome
Gait disturbance, Ventriculomegaly, Unilateral renal agenesis, Hydronephrosis, Hydrocephalus, Att... OMIM:609757
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Muenke Syndrome
Tarsal synostosis, Hydrocephalus, Carpal synostosis, Coronal craniosynostosis ORPHA:53271
Pallister-Hall-Like Syndrome
Renal dysplasia, Micropenis, Hydrocephalus OMIM:241800
Vitamin K Antagonist Embryofetopathy
Epiphyseal stippling, Myelomeningocele, Hydrocephalus ORPHA:1914
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Dysphagia, Hyponatremia, Elevated circulating creatine kinase concen... ORPHA:94093
Lissencephaly 5
Hydrocephalus OMIM:615191
Thyrotoxic Periodic Paralysis
Mildly elevated creatine kinase, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia... ORPHA:79102
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dilated fourth ventricle, Truncal ataxia, Hydrocephalus, Dandy-Walker malformation OMIM:220219
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Hydroxyprolinemia OMIM:239000
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy, Hematuria, Cystathioninuria, Nephropathy, Hemolytic-uremic syndrome, Methylmalonic acid... OMIM:277400
Cole-Carpenter Syndrome 2
Osteopenia, Lambdoidal craniosynostosis, Hydrocephalus, Coronal craniosynostosis OMIM:616294
Joubert Syndrome 14
Ataxia, Hydrocephalus, Dandy-Walker malformation, Renal cyst OMIM:614424
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Increased bone mineral density ORPHA:1237
Holoprosencephaly, Meningocele, Decreased skull ossification, Hypoplasia of penis, Hypospadias, H... ORPHA:3376
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Decreased skull ossification OMIM:300863
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Ventriculomegaly, Horseshoe kidney, Hydrocephalus OMIM:218350
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Unsteady gait, Hydrocephalus OMIM:617542
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Absence of renal corticomedullary differentiation, Hydrocephalus, Stillbirth OMIM:259720
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteoporosis, Ataxia, Hypercalciuria, Renal cyst, Ureteral stenosis, Osteopenia, Nephrocalcinosis OMIM:615398
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Increased urinary potassium, Renal salt wasting, Decreased glomerular f... OMIM:613090
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Increased urinary potassium, Renal salt wa... OMIM:602522
Osteolysis, Hydrocephalus, Recurrent fractures, Abnormal pelvis bone ossification, Osteomyelitis ORPHA:763
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Hydrocephalus, Abnormal cortical bone morphology OMIM:614886
Central Precocious Puberty
Hydrocephalus ORPHA:759
Krabbe Disease
Increased CSF protein, Hydrocephalus OMIM:245200
Gorlin Syndrome
Vertebral fusion, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Ventriculomegaly, Chronic kidney disease, Hydrocephalus OMIM:615630
Aase-Smith Syndrome I
Flexion contracture, Hydrocephalus, Dandy-Walker malformation OMIM:147800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Coach Syndrome 2
Hydrocephalus, Hyperechogenic kidneys OMIM:619111
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Tenorio Syndrome
Gait disturbance, Ventriculomegaly, Osteopenia, Hydrocephalus OMIM:616260
16P13.2 Microdeletion Syndrome
Ventriculomegaly, Gait disturbance, Flexion contracture, Dilated third ventricle, Hypogonadism, M... ORPHA:500055
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Ventriculomegaly, Ataxia, Increased CSF protein, Hydrocephalus OMIM:272200
Crouzon Disease
Multiple suture craniosynostosis, Hydrocephalus ORPHA:207
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Edinburgh Malformation Syndrome
Joint stiffness, Hydrocephalus ORPHA:1895
Neurogenic bladder, Hydrocephalus ORPHA:252054
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Ataxia OMIM:207950
Lowry-Maclean Syndrome
Osteoporosis, Craniosynostosis, Hypospadias, Osteopenia, Hydrocephalus ORPHA:2409
Urinary bladder sphincter dysfunction, Hydrocephalus ORPHA:137817
Mental Retardation, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventriculomegaly, Renal corticomedullary cysts, Hydrocephalus OMIM:219730
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Glutaric aciduria, Ventriculomegaly, Ataxia, Chronic kidney disease, Limb dystonia, Ath... ORPHA:25
Emanuel Syndrome
Infertility, Renal hypoplasia, Ventriculomegaly, Unilateral renal agenesis, Multiple joint contra... ORPHA:96170
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Arnold-Chiari Malformation Type Ii
Neurogenic bladder, Difficulty walking, Ventriculomegaly, Aqueductal stenosis, Ataxia, Meningocel... ORPHA:1136
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypocalciuria OMIM:154020
Joubert Syndrome With Renal Defect
Gait disturbance, Nephropathy, Ataxia, Renal insufficiency, Hydrocephalus ORPHA:220497
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis OMIM:239199
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys, Proteinuria OMIM:613845
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis, Hydrocephalus, Dandy-Walker malformation OMIM:220210
Bartter Syndrome, Type 1, Antenatal
Hyposthenuria, Renal potassium wasting, Polyuria, Renal juxtaglomerular cell hypertrophy/hyperpla... OMIM:601678
Distal Tetrasomy 15Q
Craniosynostosis, Horseshoe kidney, Hydrocephalus, Camptodactyly, Flexion contracture, Nephroblas... ORPHA:314588
Diabetic Embryopathy
Spinal dysraphism, Hydronephrosis, Renal hypoplasia/aplasia, Ureteral duplication, Micropenis, Hy... ORPHA:1926
Hypokalemic Tubulopathy And Deafness
Renal salt wasting OMIM:619406
H Syndrome
Osteolysis, Azoospermia, Hydrocephalus, Enlarged kidney, Amenorrhea, Camptodactyly, Recurrent fra... ORPHA:168569
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Primary Hyperoxaluria
Calcium oxalate nephrolithiasis, Hematuria, Elevated urine glycolate, Recurrent fractures, Genera... ORPHA:416
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus OMIM:187600
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Hydrocephalus, Enlarged kidney OMIM:314390
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Gait disturbance, Ventriculomegaly, Ataxia, Homocystinuria, Hydrocephalus ORPHA:395
Fg Syndrome Type 1
Progressive flexion contractures, Craniosynostosis, Generalized joint laxity, Ventriculomegaly, L... ORPHA:93932
Joubert Syndrome 2
Abnormal renal physiology, Nephronophthisis, Enlarged fossa interpeduncularis, Ataxia, Renal cyst... OMIM:608091
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Abnormal renal morphology, Humeroradial synostosis, Lambdoidal craniosynostosis, Camptodactyly, F... OMIM:207410
Mucopolysaccharidosis, Type Vii
Dermatan sulfate excretion in urine, Flexion contracture, Heparan sulfate excretion in urine, Uri... OMIM:253220
Familial Hypoaldosteronism
Decreased urinary potassium, Lethargy, Proximal renal tubular acidosis, Renal salt wasting ORPHA:427
Joubert Syndrome With Oculorenal Defect
Renal insufficiency, Nephropathy, Hydrocephalus, Ataxia ORPHA:2318
Temple Syndrome
Hydrocephalus ORPHA:254516
Czeizel-Losonci Syndrome
Spina bifida, Congenital megaureter, Abnormality of the urinary system, Hydronephrosis, Spina bif... ORPHA:2437
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Azoospermia, Renal salt wasting, Oligospermia OMIM:300200
Myopathy, Centronuclear, X-Linked
Flexion contracture, Hydrocephalus OMIM:310400
Gaucher Disease
Osteomyelitis, Osteolysis, Hematuria, Arthrogryposis multiplex congenita, Proteinuria, Ventriculo... ORPHA:355
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Ataxia ORPHA:1861
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalciuria, Micropenis, Hypospadias OMIM:614732
Trisomy 1Q
Camptodactyly of finger, Congenital megaureter, Ventriculomegaly, Multicystic kidney dysplasia, H... ORPHA:261344
Mucopolysaccharidosis, Type Ii
Dermatan sulfate excretion in urine, Flexion contracture, Heparan sulfate excretion in urine, Uri... OMIM:309900
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Acrodysostosis 1 With Or Without Hormone Resistance
Epiphyseal stippling, Neonatal epiphyseal stippling, Irregular menstruation, Unilateral renal age... OMIM:101800
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Craniosynostosis, Unilateral renal agenesis, Communicating hydrocephalus ORPHA:1064
Congenital Disorder Of Glycosylation, Type Iil
Proximal tubulopathy, Ventriculomegaly, Unilateral renal agenesis, Hyperechogenic kidneys, Hydroc... OMIM:614576
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Aminopterin/Methotrexate Embryofetopathy
Holoprosencephaly, Spinal dysraphism, Anencephaly, Meningocele, Hydrocephalus ORPHA:1908
Meckel Syndrome, Type 4
Anencephaly, Meningocele, Renal cyst, Hydrocephalus, Dandy-Walker malformation OMIM:611134
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Joint hyperflexibility, Elbow ankylosis, Osteopetrosis, Abnormal corti... ORPHA:2658
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of the ureter, Re... ORPHA:1834
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Ventriculomegaly, Tub... ORPHA:228308
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Ventriculomegaly, Renal agenesis, Hypogonadism, Micropenis, Hydro... OMIM:300514
Otopalatodigital Syndrome Type 2
Ureteral obstruction, Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Inc... ORPHA:90652
Abnormal renal morphology, Ventriculomegaly, Hydrocephalus, Ataxia ORPHA:59315
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Mucopolysacchariduria, Gait disturbance, Ventriculomegaly, Flexion con... ORPHA:581
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Spina bifida, Hydranencephaly, Waddling gait, Hydronephrosis, Hydrocephalus ORPHA:2839
Gracile Bone Dysplasia
Micropenis, Hydrocephalus, Decreased skull ossification OMIM:602361
1Q44 Microdeletion Syndrome
Ventriculomegaly, Vesicoureteral reflux, Horseshoe kidney, Hydrocephalus ORPHA:238769
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting OMIM:614736
Alkuraya-Kucinskas Syndrome
Arthrogryposis multiplex congenita, Ventriculomegaly, Camptodactyly, Micropenis, Hydrocephalus OMIM:617822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Hyperphosphatemia, Hypocalcemic seizures ORPHA:79444
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Joint hyperflexibility, Ventriculomegaly, Hydrocephalus ORPHA:60040
Bartter Syndrome, Type 2, Antenatal
Hyposthenuria, Renal potassium wasting, Polyuria, Renal juxtaglomerular cell hypertrophy/hyperpla... OMIM:241200
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... ORPHA:157
Hyperphosphatasia With Mental Retardation Syndrome 1
Abnormal renal morphology, Delayed ossification of carpal bones, Athetosis, Hydrocephalus OMIM:239300
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Marden-Walker Syndrome
Camptodactyly of finger, Abnormality of the kidney, Arthrogryposis multiplex congenita, Renal age... ORPHA:2461
Hurler Syndrome
Flexion contracture, Joint stiffness, Urinary glycosaminoglycan excretion, Calvarial hyperostosis... OMIM:607014
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypercalciuria, Nephrocalcinosis, Nephrolithiasis OMIM:601198
3C Syndrome
Ventriculomegaly, Hydronephrosis, Hypoplasia of penis, Hypospadias, Hydrocephalus, Dandy-Walker m... ORPHA:7
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation, Multicystic kidney dysplasia OMIM:607361
Peho Syndrome
Arthrogryposis multiplex congenita, Hydrocephalus, Ventriculomegaly, Flexion contracture, Limitat... ORPHA:2836
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Joint stiffness, Hydrocephalus ORPHA:585
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Camptodactyly, Joint contracture of the hand, Advanced ossification of carpal bone... OMIM:224400
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Mirage Syndrome
Radial club hand, Microphallus, Hypergonadotropic hypogonadism, Recurrent urinary tract infection... OMIM:617053
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Joint stiffness, Hydrocephalus, Abnormality of the kidney ORPHA:1860
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Enlarged kidney, Flexion contracture, Heparan sulfate excretion in urine, Join... ORPHA:505248
Trisomy 17P
Urethral valve, Flexion contracture, Urethral stenosis, Hydronephrosis, Polycystic kidney dysplas... ORPHA:261290
Renal agenesis, Ventriculomegaly, Osteopetrosis, Increased bone mineral density, Renal hypoplasia... ORPHA:35107
Proteus-Like Syndrome
Hyperostosis, Communicating hydrocephalus, Hydrocephalus ORPHA:2969
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Osteoporosis, Midshaft hypospadias, Urogenital sinus anomaly, Hypernatriuria, Abnormal urine pota... ORPHA:168558
Exstrophy-Epispadias Complex
Bladder duplication, Vesicoureteral reflux, Bladder exstrophy, Renal insufficiency, Epispadias, A... ORPHA:322
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Ventriculomegaly, Hypermagnesiuria ORPHA:34527
Plasminogen Deficiency, Type I
Nephritis, Nephrolithiasis, Hydrocephalus, Dandy-Walker malformation OMIM:217090
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elbow flexion contracture, Sclerosis of skull base, Hydrocephalus, Knee flexion contracture OMIM:618162
Whipple Disease
Erectile dysfunction, Hydrocephalus, Ataxia, Arthritis ORPHA:3452
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Osteoporosis, Midshaft hypospadias, Urogenital sinus anomaly, Hypernatriuria, Abnormal urine pota... ORPHA:289548
Griscelli Syndrome
Hydrocephalus, Ataxia ORPHA:381
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Lethargy, Ataxia, Progressive cerebellar ataxia, Cerebellar ataxia associated with quadrupedal ga... ORPHA:616
Pfeiffer Syndrome
Humeroradial synostosis, Elbow ankylosis, Hydrocephalus, Coronal craniosynostosis OMIM:101600
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Intellectual Developmental Disorder, Autosomal Dominant 65
Attention deficit hyperactivity disorder, Ataxia, Noncommunicating hydrocephalus OMIM:619320
Microphallus, Enlarged kidney, Holoprosencephaly, Ventriculomegaly, Hyperechogenic kidneys, Hypos... OMIM:612651
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus ORPHA:370959
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Hydrocephalus, Multicystic kidney dysplasia ORPHA:3301
Congenital Sialidosis Type 2
Dysmetria, Abnormality of the kidney, Hydrocephalus, Ataxia ORPHA:93400
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Hydrocephalus, Joint hypermobility OMIM:618590
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Knee flexion contracture OMIM:603387
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus, Hypoplasia of penis, Hypospadias ORPHA:77298
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Craniosynostosis, Tarsal synostosis, Camptodactyly, Vesicoureteral reflux, Elbow flexion contract... ORPHA:95699
Meckel Syndrome, Type 6
Renal cyst, Hydrocephalus, Anencephaly OMIM:612284
Gitelman Syndrome
Hypocalciuria, Nocturia, Renal potassium wasting, Polyuria, Enuresis, Ataxia, Renal magnesium was... OMIM:263800
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting OMIM:610600
Hajdu-Cheney Syndrome
Foot acroosteolysis, Osteoporosis, Joint laxity, Hydrocephalus, Pathologic fracture, Renal cyst, ... OMIM:102500
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting OMIM:203400
7Q11.23 Microduplication Syndrome
Joint hypermobility, Craniosynostosis, Ventriculomegaly, Unilateral renal agenesis, Enuresis, Uns... ORPHA:96121
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Hyperphosphatemia, Hypocalcemic seizures ORPHA:79443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Flexion contracture, Hydrocephalus OMIM:615249
Joubert Syndrome
Gait disturbance, Hydrocephalus, Ataxia ORPHA:475
Hydrocephaly-Low Insertion Umbilicus Syndrome
Abnormality of the urinary system, Communicating hydrocephalus ORPHA:2184
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Renal salt wasting OMIM:264350
15Q Overgrowth Syndrome
Joint hypermobility, Abnormal renal morphology, Ureterovesical stenosis, Craniosynostosis, Horses... ORPHA:314585
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Osteolysis, Gait disturbance, Bone cyst, Flexion contracture, Hip contracture, Hypogonadism, Hydr... ORPHA:3042
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Gait disturbance, Ventriculomegaly, Hydrocephalus, Hypoplasia of penis ORPHA:1812
Campomelic Dysplasia
Absent sternal ossification, Poorly ossified cervical vertebrae, Hydronephrosis, Hydrocephalus OMIM:114290
Arrhinencephaly, Hydrocephalus, Anencephaly ORPHA:2189
Osteogenesis Imperfecta
Osteoporosis, Joint hypermobility, Joint hyperflexibility, Gait disturbance, Ventriculomegaly, Lo... ORPHA:666
Primary Ciliary Dyskinesia
Ventriculomegaly, Female infertility, Abnormal sperm motility, Male infertility, Hydrocephalus ORPHA:244
Arthrogryposis multiplex congenita, Ventriculomegaly, Generalized osteosclerosis, Joint contractu... OMIM:602398
Renal insufficiency, Osteolysis, Abnormality of the kidney, Osteomyelitis, CSF lymphocytic pleioc... ORPHA:228123
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteoporosis, Joint hypermobility, Craniosynostosis, Radioulnar synostosis, Recurrent fractures, ... OMIM:245600
Dyssegmental Dysplasia, Silverman-Handmaker Type
Spontaneous abortion, Flexion contracture, Limitation of joint mobility, Hydrocephalus ORPHA:1865
Sturge-Weber Syndrome
Hyperostosis, Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:3205
Cousin Syndrome
Camptodactyly, Hydranencephaly, Wrist flexion contracture, Hydronephrosis, Joint contracture of t... OMIM:260660
Beare-Stevenson Cutis Gyrata Syndrome
Limited elbow extension, Ventriculomegaly, Craniosynostosis, Hydrocephalus OMIM:123790
Spina bifida, Arthrogryposis multiplex congenita, Holoprosencephaly, Spinal dysraphism, Anencepha... ORPHA:63259
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Dystonia, Joint laxity, Normal pressure hydrocephalus, Spastic ataxia, Tortico... ORPHA:300570
Alexander Disease
Gait disturbance, Ataxia, Aqueductal stenosis, Osteopenia, Hydrocephalus ORPHA:58
Cerebral Visual Impairment
Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:447788
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Micropenis, Hydrocephalus OMIM:614083
Limited elbow extension, Knee joint hypermobility, Hydrocephalus, Hip joint hypermobility ORPHA:15
Genitopalatocardiac Syndrome
Hypospadias, Hydrocephalus, Multicystic kidney dysplasia ORPHA:2075
Joubert Syndrome With Ocular Defect
Gait disturbance, Hydrocephalus, Ataxia ORPHA:220493
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Stillbirth, Hydronephrosis, Hypospadias, Sclerosis of skull base, H... OMIM:304120
Alpha-Mannosidosis, Infantile Form
Osteolysis, Craniosynostosis, Joint laxity, Oligosacchariduria, Cortical thickening of long bone ... ORPHA:309282
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology, Hydrocephalus, Dilation of lateral ventricles OMIM:612301
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria OMIM:242050
Shprintzen-Goldberg Craniosynostosis Syndrome
Joint hypermobility, Craniosynostosis, Joint laxity, Camptodactyly, Joint contracture of the hand... OMIM:182212
Familial Glucocorticoid Deficiency
Hypernatriuria, Azoospermia, Recurrent urinary tract infections, Renal salt wasting ORPHA:361
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hyperglycorrhachia, Hydrocephalus ORPHA:90065
Apert Syndrome
Humeroradial synostosis, Synostosis of carpal bones, Ventriculomegaly, Hydronephrosis, Coronal cr... OMIM:101200
Apparent Mineralocorticoid Excess
Abnormal urine sodium concentration, Renal insufficiency, Nephrocalcinosis ORPHA:320
Posterior Meningocele
Difficulty walking, Enuresis, Neural tube defect, Meningocele, Occipital meningocele, Lipomyelome... ORPHA:268810
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus OMIM:615219
Marfanoid-Progeroid-Lipodystrophy Syndrome
Craniosynostosis, Hydrocephalus, Hyperextensibility of the finger joints, Asymmetric ventricles OMIM:616914
Walker-Warburg Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of penis ORPHA:899
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalciuria, Nephrolithiasis, Hypocalciuria OMIM:145980
Mucopolysaccharidosis, Type Vi
Dermatan sulfate excretion in urine, Joint stiffness, Hydrocephalus OMIM:253200
Fanconi Anemia, Complementation Group D2
Horseshoe kidney, Hypergonadotropic hypogonadism, Duplicated collecting system, Renal duplication... OMIM:227646
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Communicating hydrocephalus, Ataxia, Aminoaciduria OMIM:616084
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteoporosis, Renal neoplasm, Joint hypermobility, Craniosynostosis, Radioulnar synostosis, Recur... ORPHA:536467
Fanconi Anemia
Spina bifida, Abnormal renal morphology, Azoospermia, Hydrocephalus, Hydroureter, Ventriculomegal... ORPHA:84
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Ataxia, Glomerulopathy, Hemolytic-uremic syndrome, Methylmalonic aciduria, Renal insuff... ORPHA:79282
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Azoospermia, Decreased fertility in males, Renal salt wasting, Penoscrotal hypospadias, Hypospadias ORPHA:90791
Aymé-Gripp Syndrome
Craniosynostosis, Radioulnar synostosis, Ventriculomegaly, Camptodactyly, Limitation of joint mob... ORPHA:1272
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria OMIM:300539
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Monosomy 9Q22.3
Joint hyperflexibility, Ventriculomegaly, Nephroblastoma, Hyperactivity, Hydrocephalus ORPHA:77301
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Osteopathia Striata With Cranial Sclerosis
Camptodactyly, Craniofacial osteosclerosis, Flexion contracture of toe, Multicystic kidney dyspla... OMIM:300373
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Holoprosencephaly, Renal agenesis, Micropenis, Hydrocephalus OMIM:264480
Chromosome 6Pter-P24 Deletion Syndrome
Joint laxity, Hydrocephalus, Dandy-Walker malformation OMIM:612582
Cockayne Syndrome A
Normal pressure hydrocephalus, Irregular menstruation, Gait disturbance, Ataxia, Ivory epiphyses ... OMIM:216400
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Hydrocephalus OMIM:601499
Hajdu-Cheney Syndrome
Osteoporosis, Osteolysis, Multiple renal cysts, Joint hyperflexibility, Recurrent fractures, Coar... ORPHA:955
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Joint hypermobility, Ventriculomegaly, Unilateral renal agenesis, Hyperactivity, Hydrocephalus ORPHA:457284
Pfeiffer Syndrome Type 2
Limitation of joint mobility, Hydrocephalus, Aqueductal stenosis ORPHA:93259
Addison Disease
Generalized bone demineralization, Renal salt wasting, Decreased female libido, Decreased urinary... ORPHA:85138
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hydronephrosis, Hydrocephalus, Hyperextensibility of the finger joints OMIM:115150
Pentalogy Of Cantrell
Renal agenesis, Anencephaly, Renal dysplasia, Hypospadias, Hydrocephalus ORPHA:1335
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Hydrocephalus, Dandy-Walker malformation, Pelvic kidney OMIM:613001
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Irregular menstruation, Long penis, Renal salt wa... ORPHA:90795
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Opitz-Kaveggia Syndrome
Camptodactyly, Multiple joint contractures, Joint contracture of the hand, Hypospadias, Hydroceph... OMIM:305450
Shprintzen-Goldberg Syndrome
Camptodactyly of finger, Craniosynostosis, Joint hyperflexibility, Ventriculomegaly, Joint stiffn... ORPHA:2462
Hypocalciuric Hypercalcemia, Familial, Type Ii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalci... OMIM:145981
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting ORPHA:556037
Dystonia, Holoprosencephaly, Joint hyperflexibility, Spinal dysraphism, Abnormality of the urinar... ORPHA:2162
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Increased urinary potassium, Renal sal... ORPHA:89938
Lhermitte-Duclos Disease
Hydrocephalus, Ataxia ORPHA:65285
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Craniosynostosis, Hydrocephalus ORPHA:1555
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Vacterl With Hydrocephalus
Spina bifida, Renal agenesis, Arrhinencephaly, Aqueductal stenosis, Renal hypoplasia/aplasia, Hyd... ORPHA:3412
Dubowitz Syndrome
Craniosynostosis, Joint hyperflexibility, Hydronephrosis, Spina bifida occulta, Hypospadias, Hydr... ORPHA:235
1Q21.1 Microdeletion Syndrome
Joint hyperflexibility, Vesicoureteral reflux, Hydronephrosis, Hydrocephalus, Attention deficit h... ORPHA:250989
Mucopolysaccharidosis Type 1
Mucopolysacchariduria, Joint stiffness, Hydrocephalus ORPHA:579
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting ORPHA:556030
Laurin-Sandrow Syndrome
Limitation of joint mobility, Tarsal synostosis, Hydrocephalus ORPHA:2378
Cole-Carpenter Syndrome
Joint hyperflexibility, Recurrent fractures, Communicating hydrocephalus ORPHA:2050
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Joint hypermobility, Craniosynostosis, Congenital megaureter, Abnormality of the urinary system, ... ORPHA:369837
Joubert Syndrome With Hepatic Defect
Gait disturbance, Nephropathy, Ataxia, Multicystic kidney dysplasia, Renal insufficiency, Hydroce... ORPHA:1454
Prostatitis, Osteomyelitis, Osteolysis, Hydrocephalus ORPHA:1546
Oculoskeletodental Syndrome
Mucopolysacchariduria, Hypercalciuria, Elbow flexion contracture, Renal agenesis OMIM:618440
Kabuki Syndrome
Crossed fused renal ectopia, Joint hyperflexibility, Ventriculomegaly, Duplicated collecting syst... ORPHA:2322
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:466650
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Popov-Chang syndrome
Hydrocephalus OMIM:618428
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Renal hypoplasia, Holoprosencephaly, Unilateral renal agenesis, Hypospadias... OMIM:270400
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Gait ataxia, Joint laxity, Hydrocephalus OMIM:617011
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Ventriculomegaly, Hydrocephalus ORPHA:87
Bartter Syndrome, Type 5, Antenatal, Transient
Hypercalciuria, Polyuria, Medullary nephrocalcinosis OMIM:300971
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis, Hydrocephalus OMIM:104350
Ciliary Dyskinesia, Primary, 1
Male infertility, Communicating hydrocephalus OMIM:244400
Abnormal renal morphology, Hydrocephalus, Abnormality of the ureter ORPHA:1666
Thoracoabdominal Syndrome
Renal agenesis, Hydrocephalus, Anencephaly, Hypospadias OMIM:313850