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Gene: Nherf1 MGI:1349482

Gene Summary

Name:

NHERF family PDZ scaffold protein 1

Synonyms:

Slc9a3r1, NHERF1, sodium-hydrogen exchanger regulatory factor, NHE-RF, EBP-50

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased basophil cell number	Nherf1^em1(IMPC)H	HOM	Early adult	4.66×10^-06
increased leukocyte cell number	Nherf1^em1(IMPC)H	HOM	Early adult	1.18×10^-07
decreased circulating iron level	Nherf1^em1(IMPC)H	HOM	Early adult	8.57×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

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Viewing: all phenotypes

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 Nherf1 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.

Human diseases associated with Nherf1 (1 diseases)
Human diseases predicted to be associated with Nherf1 (709 diseases)

The table below shows human diseases associated to Nherf1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2		Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur...	OMIM:612287

The table below shows human diseases predicted to be associated to Nherf1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib...	OMIM:612286
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur...	OMIM:612287
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Recurrent fractures, Osteomalacia, Delayed epiphyseal oss...	OMIM:300009
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma...	OMIM:134600
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Rickets, Glycosuria, Aminoaciduria, Low-molecular-weight proteinuria	OMIM:615605
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Waddling gait, Hyperphosphaturia, Osteomalacia, Nephrolithiasis, Hypercalciuria, Reduced bone min...	ORPHA:157215
Dent Disease	Delayed epiphyseal ossification, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight proteinuri...	ORPHA:1652
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Nephrocalcinosis, Generalized...	ORPHA:99879
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Rickets, Hyperca...	OMIM:613388
Pineocytoma	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251912
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis	OMIM:123155
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Idiopathic Hypercalciuria	Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat...	ORPHA:2197
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Refractory Celiac Disease	Villous atrophy, Malabsorption, Hypophosphatemia, Protein-losing enteropathy, Hypocalcemia, Hypoa...	ORPHA:398063
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Rickets, Nephrocalcinosis, Aminoaciduria, Glycosuria	OMIM:616026
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Rickets, Osteomalacia	ORPHA:89937
Fanconi-Bickel Syndrome	Osteopenia, Hyperphosphaturia, Rickets, Hypercalciuria, Generalized aminoaciduria, Nephrocalcinos...	ORPHA:2088
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:611808
Distal Renal Tubular Acidosis	Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Renal cyst, Increased ...	ORPHA:18
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Ataxia, Proteinuria, Increased CSF lactate, Renal tubular dysfunction, Aminoac...	ORPHA:436271
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Chronic ...	OMIM:300554
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Waddling gait, Hyperphosphaturia, Hypercalciuria, Knee flexion contr...	OMIM:156400
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis	OMIM:613312
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Limitation of joint mobility, Ataxia	ORPHA:99966
Oncogenic Osteomalacia	Hyperphosphaturia, Fibrous dysplasia of the bones, Increased susceptibility to fractures, Renal p...	ORPHA:352540
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation, Orbital craniosynostosis	ORPHA:1538
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Renal phosphate wasting, Rickets, Osteomalacia	OMIM:193100
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Ataxia, Proteinuria, Increased CSF lactate, Renal tubular dysfunction, Glycosu...	OMIM:220110
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Rickets, Hypercalciuria, Generalized ami...	OMIM:227810
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperphosphaturia, Macroorchidism, Recurrent fractures, Osteomal...	ORPHA:562
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ataxia, Ventriculomegaly	OMIM:618709
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Kleeblattschaedel	Hydrocephalus, Elbow ankylosis, Craniosynostosis	OMIM:148800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Hypercalc...	OMIM:241530
Hypercalcemia, Infantile, 2	Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:616963
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hyperphosphaturia, Recurrent fractures, Horseshoe kidney, Hypophosphatemic rickets	OMIM:163200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Truncal ataxia	OMIM:220200
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, R...	ORPHA:47159
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti...	ORPHA:289176
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Villous atrophy, Abnormal intestine morphology	OMIM:251850
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Rickets, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Gl...	ORPHA:411629
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Cystinosis	Hypokalemia, Hypophosphatemia, Malabsorption	ORPHA:213
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Hyperparathyroidism, Neonatal Severe	Hyperphosphaturia, Polyuria, Recurrent fractures, Hypercalciuria, Aminoaciduria	OMIM:239200
Primary Fanconi Renotubular Syndrome	Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Cystinosis, Nephropathic	Male infertility, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Rickets, Stage 5...	OMIM:219800
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Mednik Syndrome	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Ab...	ORPHA:171851
Wilson Disease	Hyperphosphaturia, Proteinuria, Osteomalacia, Osteoarthritis, Osteoporosis, Nephrolithiasis, Hype...	OMIM:277900
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Hypermagnesemia, Peptic ulcer, Hypophosphatemia	OMIM:600740
Lowe Oculocerebrorenal Syndrome	Ventriculomegaly, Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Osteomalacia, ...	OMIM:309000
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile...	OMIM:619079
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
1Q21.1 Microduplication Syndrome	Arthrogryposis multiplex congenita, Hydrocephalus, Hypospadias, Cryptorchidism	ORPHA:250994
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	OMIM:604250
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Joint laxity, Hydrocephalus	OMIM:236660
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Elbow flexion contracture, Broad-based gait	OMIM:619470
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Abnormality of iron homeostasis	ORPHA:75563
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Masa Syndrome	Hydrocephalus, Shuffling gait, Ventriculomegaly	OMIM:303350
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Osteoarthritis, Rickets, Renal phosphate wasting, Renal tubular dysfunction, Hypoph...	OMIM:307800
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Gait disturbance	ORPHA:26
Pancreatic Lipase Deficiency	Fat malabsorption, Hypocholesterolemia, Steatorrhea	OMIM:614338
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron	OMIM:603358
Papillary Tumor Of The Pineal Region	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251915
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Biemond Syndrome Type 2	Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias	ORPHA:141333
Hemochromatosis, Type 2B	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr...	OMIM:613313
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Fried Syndrome	Hydrocephalus, Gait disturbance	ORPHA:85335
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Flexion contracture	OMIM:300884
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Gait disturbance, Urinary incontinence	OMIM:236690
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Nasu-Hakola Disease	Hydrocephalus, Bone cyst, Limitation of joint mobility, Reduced bone mineral density, Ventriculom...	ORPHA:2770
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypophosphatemia, High palate, Hypomagnesemia...	OMIM:619743
Irida Syndrome	Decreased circulating copper concentration, Abnormal intestine morphology	ORPHA:209981
Alexander Disease	Hydrocephalus, Ataxia, Increased CSF protein concentration, Dysmetria	OMIM:203450
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Gómez-López-Hernández Syndrome	Hydrocephalus, Ataxia	ORPHA:1532
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
East Syndrome	Ataxia, Renal salt wasting, Renal magnesium wasting, Inability to walk, Enuresis, Abnormal urinar...	ORPHA:199343
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Metatropic Dysplasia	Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Hydrocephalus, Abnorm...	ORPHA:2635
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Stillbirth	OMIM:276950
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
2,4-Dienoyl-Coa Reductase Deficiency	Ataxia, Hydrocephalus, Increased CSF lactate, Choreoathetosis, Colpocephaly, Hyperlysinuria, Incr...	OMIM:616034
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Peptic ulcer, Hypermagnesemia, Hypocalcemic seizures	ORPHA:405
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype...	OMIM:229600
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Craniosynostosis	ORPHA:1528
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Inability to walk, Hydrocephalus, Ataxia	OMIM:618174
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ...	ORPHA:89936
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypospadias, Craniosynostosis, Cryptorchidism, Hypercalciuria, Micropenis	OMIM:614732
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Craniosynostosis	OMIM:612247
Cole-Carpenter Syndrome 1	Osteopenia, Communicating hydrocephalus, Recurrent fractures, Hydrocephalus, Reduced bone mineral...	OMIM:112240
Neural Tube Defects, Susceptibility To	Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Hydrocephalus, Flexion contracture, Gait disturbance, Ventriculomegaly	ORPHA:272
Nephronophthisis 18	Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointe...	OMIM:615862
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Infantile Sialic Acid Storage Disease	Osteopenia, Nephrotic syndrome, Hydrocephalus	OMIM:269920
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Col...	OMIM:174900
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Distal renal tubular acidosis, Rickets, Hypercalciuria	OMIM:602722
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
Greig Cephalopolysyndactyly Syndrome	Hypospadias, Craniosynostosis, Cryptorchidism, Hydrocephalus, Camptodactyly of toe, Joint contrac...	OMIM:175700
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Steppage gait, Hydrocephalus, Flexion contracture, Inability to walk by childhood/adolescence	ORPHA:99947
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Unilambdoid synostosis, Ventriculomegaly	OMIM:618577
Hjv Or Hamp-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro...	ORPHA:79230
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen...	ORPHA:300298
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis	ORPHA:98827
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed vertebral ossification, Hydrocephalus, Flexion contracture, Gait disturbance, Delayed pub...	OMIM:613330
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Renal agenesis, Craniosynostosis, Cryptorchidism, Hydrocephalus, Renal hypoplasia, R...	ORPHA:171839
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Hydrocephalus, Cranial hyperostosis...	OMIM:259710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Inability to walk, Hydrocephalus, Flexion contracture	OMIM:613155
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Ventriculomegaly, Renal potassium wasting	OMIM:618314
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Joint hyperflexibility, Hydrocephalus, Gait disturbance	ORPHA:2181
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Craniosynostosis	ORPHA:1516
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo...	ORPHA:848
Oxoglutaric Aciduria	Abnormal urine alpha-ketoglutarate concentration, Hydrocephalus, Ataxia	ORPHA:31
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar...	ORPHA:53
Central Neurocytoma	Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus	ORPHA:73256
Diencephalic Syndrome	Hydrocephalus, Long penis	ORPHA:1672
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Hydrocephalus, Nephroblastoma, Ventriculomegaly	OMIM:602501
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki...	OMIM:300908
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis	OMIM:231100
Sanjad-Sakati Syndrome	Cryptorchidism, Intestinal obstruction, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Peptic ulcer, Testicular neoplasm, Dysphagia, Hypophosphatemia	ORPHA:99880
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism	ORPHA:2183
Bile Acid Synthesis Defect, Congenital, 5	Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile...	OMIM:616278
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis	OMIM:175510
Hogue-Janssen Syndrome 2	Joint hypermobility, Unilateral renal agenesis, Inability to walk, Hydrocephalus, Gait ataxia, Ve...	OMIM:616362
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Parathyroid Carcinoma	Hypercalcemia, Peptic ulcer, Testicular neoplasm, Dysphagia, Hypophosphatemia	ORPHA:143
Functioning Gonadotropic Adenoma	Osteopenia, Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual c...	ORPHA:91348
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Bifid uvula, Hypocalcemic seizures	OMIM:241410
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ve...	OMIM:602200
Bresek Syndrome	Renal dysplasia, Hypoplasia of the bladder, Cryptorchidism, Hydrocephalus, Vesicoureteral reflux,...	ORPHA:85284
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Joint stiffness	ORPHA:2182
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitia...	ORPHA:85450
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Craniosynostosis	ORPHA:380
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Ataxia, Increased skull ossification, Craniofacial osteosclerosis, Hydrocephalu...	OMIM:618476
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Gait disturbance	ORPHA:275543
Thanatophoric Dysplasia Type 2	Encephalocele, Abnormality of the kidney, Hydrocephalus, Limitation of joint mobility, Joint hype...	ORPHA:93274
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Truncal ataxia	OMIM:220220
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Gait disturbance, Hydronephrosis, Ventr...	OMIM:609757
Hereditary Mixed Polyposis Syndrome	Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema...	ORPHA:157794
Intussusception	Intussusception	OMIM:147710
Raine Syndrome	Hypophosphatemia, High palate, Cleft palate, Protruding tongue	OMIM:259775
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus	OMIM:300886
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Abnormal localization of kidney	ORPHA:83473
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Pearson Syndrome	Hypomagnesemia, Dysphagia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Steatorrhea, Hyperalanine...	ORPHA:699
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Cryptorchidism, Increased bone mineral density	ORPHA:1237
Aceruloplasminemia	Anemia, Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron	OMIM:604290
Pettigrew Syndrome	Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Flexion contracture, Gait ataxia, Choreoath...	OMIM:304340
Tenorio Syndrome	Osteopenia, Joint laxity, Hydrocephalus, Enuresis, Gait disturbance, Ventriculomegaly	OMIM:616260
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Gait disturbance, Holoprosencephaly	ORPHA:588
Alexander Disease Type I	Hydrocephalus, Ataxia	ORPHA:363717
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Central Precocious Puberty In Male	Hydrocephalus, Abnormality of the testis size	ORPHA:649929
6P22 Microdeletion Syndrome	Hydrocephalus, Hydronephrosis	ORPHA:251046
Vitamin K Antagonist Embryofetopathy	Epiphyseal stippling, Myelomeningocele, Hydrocephalus	ORPHA:1914
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Malabsorption, Cryptorchidism, Narrow palate, Azoospermia, Hypokalem...	ORPHA:534
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadism	OMIM:601794
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Craniosynostosis, Hydrocephalus, Osteopetrosis, Pa...	OMIM:259700
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Akinesia, Hydrocephalus, Hydranencephaly, Joint contracture, Dandy-Walker malfo...	OMIM:225790
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Fibrous Dysplasia Of Bone	Hypercalcemia, Testicular neoplasm, Hypophosphatemia	ORPHA:249
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Renal magnesium wasting, Nephrocalcinosis, Renal potassium wasting	ORPHA:564178
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Osteomalacia, Abnormal calcification of the carpal bones, Nephrocalcinosis, Fu...	ORPHA:51608
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Craniosynostosis, Hypercalciuria, Increased susceptibility to fract...	OMIM:241500
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Triploidy	Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ...	ORPHA:3376
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Cryptorchidism, Hydrocephalus, Horseshoe kidney, Ventriculomegaly	OMIM:218350
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Ataxia, Polyuria, Renal salt wasting, Enuresis, Dysdiadochokinesis, Hypocalciuria, Renal sodium w...	OMIM:612780
Thanatophoric Dysplasia	Abnormality of the kidney, Joint stiffness, Hydrocephalus, Joint hyperflexibility, Ventriculomegaly	ORPHA:2655
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Hypocalciuria, Joint laxity, Hypophosphaturia	ORPHA:73223
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Hemolytic-uremic syndrome, Hydrocephalus, Osteoporosis, Ventriculomegaly	ORPHA:2169
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H...	ORPHA:94093
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Chiari Malformation Type Ii	Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy	OMIM:207950
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Ataxia, Abnormal renal tubule morphology, Reduced bone mineral density	ORPHA:2720
Temple Syndrome	Cryptorchidism, Hydrocephalus, Flexion contracture, Decreased testicular size, Joint hypermobility	OMIM:616222
Glutaric Acidemia I	Ketonuria, Glutaric aciduria, Hydrocephalus, Choreoathetosis, Lateral ventricle dilatation	OMIM:231670
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Cole-Carpenter Syndrome 2	Osteopenia, Recurrent fractures, Hydrocephalus, Lambdoidal craniosynostosis, Coronal craniosynost...	OMIM:616294
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr...	OMIM:239000
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Unsteady gait	OMIM:617542
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:143880
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Sagittal craniosynostosis, Hydrocephalus, Tubulointerstitial nephritis...	ORPHA:459061
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Muenke Syndrome	Carpal synostosis, Hydrocephalus, Coronal craniosynostosis, Tarsal synostosis	ORPHA:53271
Hereditary Chronic Pancreatitis	Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:676
Distal Triplication 15Q	Abnormality of the kidney, Craniosynostosis, Hydrocephalus, Flexion contracture, Dilatation of th...	ORPHA:314588
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Hydrocephalus, Tubular luminal dilatation, Renal corticomedullary cysts, Hyp...	OMIM:219730
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Renal dysplasia, Micropenis	OMIM:241800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Chronic kidney disease, Ventriculomegaly, Nephronophthisis	OMIM:615630
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,...	OMIM:613090
Lowry-Maclean Syndrome	Osteopenia, Hypospadias, Craniosynostosis, Bilateral cryptorchidism, Hydrocephalus, Osteoporosis	ORPHA:2409
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Decreased calvarial ossification, Polycystic kidney dysplasia...	OMIM:617866
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Ureteral stenosis, Ataxia, Hydroureter, Osteoporosis, Hypercalciuria, Renal cyst, Nep...	OMIM:615398
Coach Syndrome 2	Hydrocephalus, Hyperechogenic kidneys	OMIM:619111
Gorlin Syndrome	Vertebral fusion, Hydrocephalus, Hypogonadotropic hypogonadism, Cryptorchidism	ORPHA:377
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Decreased skull ossification	OMIM:300863
Gracile Syndrome	Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ...	ORPHA:53693
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Camptodactyly of finger, Joint hypermobility, Unilateral renal agenesis, Cryptorchidism, Hydrocep...	OMIM:619951
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:616355
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Hydrocephalus, Spinal dysraphism,...	ORPHA:1926
Hemangioblastoma	Hydrocephalus, Neurogenic bladder	ORPHA:252054
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macro...	ORPHA:8
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ataxia, Hydrocephalus, Colpocephaly, Distal arthrogryposis, Ventriculomegaly	OMIM:619833
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Multiple Sulfatase Deficiency	Ataxia, Hydrocephalus, Mucopolysacchariduria, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Aase-Smith Syndrome I	Hydrocephalus, Flexion contracture, Dandy-Walker malformation	OMIM:147800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Tetrasomy 15Q26	Hydrocephalus, Horseshoe kidney, Camptodactyly, Hydronephrosis, Dandy-Walker malformation	OMIM:614846
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Fanconi Anemia, Complementation Group R	Hydrocephalus, Pelvic kidney, Radial dysplasia	OMIM:617244
Joubert Syndrome With Renal Defect	Encephalocele, Renal insufficiency, Ataxia, Hydrocephalus, Gait disturbance, Nephropathy	ORPHA:220497
Crouzon Syndrome	Hydrocephalus, Multiple suture craniosynostosis	ORPHA:207
Temple Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:254516
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting	OMIM:201910
Edinburgh Malformation Syndrome	Hydrocephalus, Joint stiffness	ORPHA:1895
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hydrocephalus	ORPHA:2701
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Dandy-Walker malformation	OMIM:611134
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Multicystic kidney dysplasia, Dandy-Walker malformation	OMIM:607361
Emanuel Syndrome	Ventriculomegaly, Recurrent urinary tract infections, Unilateral renal agenesis, Cryptorchidism, ...	OMIM:609029
Osteootohepatoenteric Syndrome	Proteinuria, Recurrent fractures, Hydrocephalus, Grade II vesicoureteral reflux, Reduced bone min...	OMIM:619377
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cryptorchidism, Hydrocephalus, Flexion contracture, Hypogonadism, Gait disturbance, Micropenis, D...	ORPHA:500055
Peroxisome Biogenesis Disorder 12A (Zellweger)	Renal tubular dysfunction, Hydrocephalus, Abnormal cortical bone morphology	OMIM:614886
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction	ORPHA:137817
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercal...	OMIM:601678
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Hypokalemic Tubulopathy And Deafness	Renal salt wasting	OMIM:619406
Adrenal Hypoplasia, Congenital	Hypogonadotropic hypogonadism, Renal salt wasting, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:300200
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Hydrocephalus, Flexion contracture, Dandy-Walker malformation	OMIM:310400
Emanuel Syndrome	Ventriculomegaly, Multiple joint contractures, Unilateral renal agenesis, Cryptorchidism, Hydroce...	ORPHA:96170
Hypomagnesemia 2, Renal	Renal magnesium wasting, Renal insufficiency, Hypocalciuria	OMIM:154020
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Achilles tendon contracture, Osteoporosis, Normal pressure hydroc...	OMIM:620351
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Fg Syndrome Type 1	Limited elbow extension and supination, Broad-based gait, Progressive flexion contractures, Hypos...	ORPHA:93932
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria	OMIM:239199
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Generalized osteos...	ORPHA:416
Joubert Syndrome With Oculorenal Defect	Encephalocele, Renal insufficiency, Ataxia, Hydrocephalus, Nephropathy	ORPHA:2318
Trisomy 1Q	Multicystic kidney dysplasia, Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Congenital ...	ORPHA:261344
Gracile Bone Dysplasia	Hydrocephalus, Decreased skull ossification, Micropenis	OMIM:602361
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys	OMIM:613845
Pontocerebellar Hypoplasia, Type 7	Ataxia, Cryptorchidism, Hydrocephalus, Choreoathetosis, Micropenis, Ventriculomegaly	OMIM:614969
H Syndrome	Recurrent fractures, Abnormality of the kidney, Hydrocephalus, Osteolysis, Azoospermia, Hypogonad...	ORPHA:168569
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Joubert Syndrome 14	Encephalocele, Ataxia, Hydrocephalus, Meningocele, Renal cyst, Dandy-Walker malformation	OMIM:614424
Plasminogen Deficiency, Type I	Hydrocephalus, Nephrolithiasis, Dandy-Walker malformation, Nephritis, Ventriculomegaly	OMIM:217090
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Hypospadias, Hydronephrosis, Dandy-Walker malformation	OMIM:220210
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus, Limitation of joint mobility, Advanced ossification of carpal bones...	OMIM:224400
Czeizel-Losonci Syndrome	Spina bifida, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Congenital megaureter, Abnormal...	ORPHA:2437
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Cryptorchidism, Osteoporosis, Decreased fertility, Abnormal urine potassium c...	ORPHA:168558
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Hydrocephalus, Joint hypermobility	OMIM:612940
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Trisomy 17P	Hypoplasia of penis, Urethral valve, Hydrocephalus, Urethral stenosis, Flexion contracture, Polyc...	ORPHA:261290
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Hydrocephalus, Proximal tubulopathy, Hyperechogenic kidneys, Ventricul...	OMIM:614576
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Humeroradial synostosis, Flexion contracture, Abnormal renal morphology, Lambdoida...	OMIM:207410
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Cryptorchidism, Osteoporosis, Decreased fertility, Abnormal urine potassium c...	ORPHA:289548
Hurler Syndrome	Joint stiffness, Heparan sulfate excretion in urine, Hydrocephalus, Flexion contracture, Cranial ...	OMIM:607014
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly	ORPHA:77298
Mirage Syndrome	Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Radial club hand...	OMIM:617053
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Hydrocephalus, Met...	OMIM:277400
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Ataxia	ORPHA:1861
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting	OMIM:613743
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Unilateral renal agenesis, Craniosynostosis	ORPHA:1064
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Hydrocephalus	ORPHA:3301
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Hydrocephalus, Cranial hyperostosis, Stillbirth, Decreased osteoc...	OMIM:259720
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus, Urethral atresia, Neonatal death, Hydronephrosis, Enlarged kidney	OMIM:314390
Rhombencephalosynapsis	Hydrocephalus, Abnormal renal morphology, Ataxia, Ventriculomegaly	ORPHA:59315
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Cryptorchidism, Hydrocephalus, Meningocele, Sclerosis of sk...	OMIM:130720
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:370959
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Increased bone mineral density, Hypospadias, Cryptorchidism, Hydroceph...	ORPHA:2658
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercal...	OMIM:241200
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Congenital contracture, Hydrocephalus, Colpocephaly, Ventriculomegaly	OMIM:620156
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Pelvis-Shoulder Dysplasia	Waddling gait, Camptodactyly of finger, Spina bifida, Hydrocephalus, Hydranencephaly, Hydronephrosis	ORPHA:2839
Griscelli Syndrome	Encephalocele, Hydrocephalus, Ataxia	ORPHA:381
Apparent Mineralocorticoid Excess	Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency, Renal sodium wasting	ORPHA:320
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Neonatal epiphyseal stippling, Irregula...	OMIM:101800
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Otopalatodigital Syndrome Type 2	Encephalocele, Increased bone mineral density, Hypospadias, Camptodactyly of finger, Tarsal synos...	ORPHA:90652
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Hydrocephalus, Red-brown urine, Renal tubular epithel...	ORPHA:228308
Desmosterolosis	Increased bone mineral density, Renal agenesis, Renal hypoplasia/aplasia, Hydrocephalus, Osteopet...	ORPHA:35107
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ataxia, Glutaric aciduria, Chronic kidney disease, Athetosis, Subepe...	ORPHA:25
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Athetosis, Hydrocephalus, Abnormal renal morphology, Delayed ossification of carpal bones	OMIM:239300
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly, Knee flexion contracture	OMIM:603387
Fanconi Anemia, Complementation Group B	Hypergonadotropic hypogonadism, Renal agenesis, Hydrocephalus, Hypogonadism, Micropenis, Ventricu...	OMIM:300514
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Camptodactyly, Arthrogryposis multiplex congenita, Micropenis, Dandy-Walker malfor...	OMIM:617822
Mucopolysaccharidosis, Type Ii	Heparan sulfate excretion in urine, Hydrocephalus, Flexion contracture, Dermatan sulfate excretio...	OMIM:309900
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Hydrocephalus, Abnormality of the ureter, Renal cyst, Abnormal localiza...	ORPHA:1834
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Ventriculomegaly, Recurrent fractures,...	ORPHA:355
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Enuresis, Difficulty walkin...	ORPHA:268810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hydrocephalus, Flexion contracture, Lateral ventricle dilatation, Dilated third...	OMIM:613154
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Neurogenic bladder, Block vertebrae, Myelomeningocele, Hydrocephalus, Spina bif...	OMIM:613686
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Gait disturbance, Ventriculomegaly	ORPHA:1812
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ataxia, Hydrocephalus, Gait disturbance, Homocystinuria, Ventriculomegaly	ORPHA:395
Thanatophoric Dysplasia Type 1	Hydrocephalus, Abnormality of the kidney, Ventriculomegaly, Joint stiffness	ORPHA:1860
Crouzon Syndrome	Coronal craniosynostosis, Lambdoidal craniosynostosis, Hydrocephalus, Sagittal craniosynostosis	OMIM:123500
1Q44 Microdeletion Syndrome	Vesicoureteral reflux, Hydrocephalus, Ventriculomegaly, Horseshoe kidney	ORPHA:238769
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis...	ORPHA:157
Proteus-Like Syndrome	Communicating hydrocephalus, Hyperostosis, Hydrocephalus	ORPHA:2969
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint hyperflexibility, Hydrocephalus, Ventriculomegaly	ORPHA:60040
Pfeiffer Syndrome	Coronal craniosynostosis, Humeroradial synostosis, Elbow ankylosis, Hydrocephalus	OMIM:101600
Hyperparathyroidism, Transient Neonatal	Osteopenia, Communicating hydrocephalus, Recurrent fractures, Unilateral renal agenesis, Subperio...	OMIM:618188
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Renal salt wasting	OMIM:264350
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Ataxia, Joint stiffness, Heparan sulfate excretion in urine, Hydroceph...	ORPHA:581
Apert Syndrome	Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Cryptorchidism, Delayed epip...	OMIM:101200
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Cryptorchidism, Renal salt wasting	OMIM:614736
Multiple Sulfatase Deficiency	Hydrocephalus, Mucopolysacchariduria, Joint stiffness	ORPHA:585
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Familial Glucocorticoid Deficiency	Recurrent urinary tract infections, Renal salt wasting, Cryptorchidism, Testicular adrenal rest t...	ORPHA:361
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Inability to walk, Hydroce...	ORPHA:2356
3C Syndrome	Hypoplasia of penis, Hypospadias, Hydrocephalus, Dandy-Walker malformation, Hydronephrosis, Ventr...	ORPHA:7
Congenital Sialidosis Type 2	Hydrocephalus, Ataxia, Abnormality of the kidney, Dysmetria	ORPHA:93400
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Arima Syndrome	Dilated fourth ventricle, Ataxia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuri...	OMIM:243910
Joubert Syndrome	Encephalocele, Hydrocephalus, Ataxia, Gait disturbance	ORPHA:475
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Ataxia, Hydrocephalus, Rena...	OMIM:608091
Peho Syndrome	Hydrocephalus, Flexion contracture, Limitation of joint mobility, Arthrogryposis multiplex congen...	ORPHA:2836
Exstrophy-Epispadias Complex	Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd...	ORPHA:322
Corticosterone Methyloxidase Type Ii Deficiency	Renal salt wasting	OMIM:610600
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Joint stiffness, Heparan sulfate excretion in urine, Inability to walk, Hydrocephalu...	ORPHA:505248
Corticosterone Methyloxidase Type I Deficiency	Renal salt wasting	OMIM:203400
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Ataxia, Hydrocephalus...	ORPHA:1454
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Noncommunicating hydrocephalus	OMIM:619320
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Hydrocephalus, Abnormal sperm motility, Ventriculomegaly	ORPHA:244
Oculocerebrocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Vesicoureteral reflux, Micropenis, Elbow ankylosis, Hypospadias, Cryptorchid...	ORPHA:95699
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Hydrocephalus, Joint hypermobility	OMIM:618590
Whipple Disease	Arthritis, Hydrocephalus, Ataxia, Erectile dysfunction	ORPHA:3452
Mucopolysaccharidosis, Type Vii	Joint stiffness, Heparan sulfate excretion in urine, Hydrocephalus, Flexion contracture, Limitati...	OMIM:253220
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Joint hypermobility, Cranios...	ORPHA:314585
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Hydrocephalus, Dandy-Walker malformation	OMIM:612582
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Hydrocephalus, Irregular menstruation, Urinary incontinence	OMIM:616482
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Recurrent fractures, Joint hypermobility, Craniosynostosis, Hydrocephalus, Osteoporos...	OMIM:245600
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Gitelman Syndrome	Ataxia, Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Nocturia, Renal potassium was...	OMIM:263800
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Hyposthenuria	OMIM:300539
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Abnormality of the urinary system	ORPHA:2184
Hydrolethalus	Cryptorchidism, Hydrocephalus, Anencephaly	ORPHA:2189
Desmosterolosis	Generalized osteosclerosis, Hydrocephalus, Arthrogryposis multiplex congenita, Joint contracture ...	OMIM:602398
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Flexion contracture, Bone cyst, Osteoly...	ORPHA:3042
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus, Ataxia, Gait disturbance	ORPHA:220493
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Hypospadias, Cryptorchidism, Hydrocephalus, Osteoporosis, Foot acrooste...	OMIM:102500
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Craniosynostosis, Cryptorchidism, Hydrocephalus, Camptodactyly, Joint c...	OMIM:182212
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elbow contracture, Hydrocephalus, Knee flexion contracture, Sclerosis of skull base, Delayed pubi...	OMIM:618162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Flexion contracture	OMIM:615249
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrocephalus, Flexion contracture, Limitation of joint mobility	ORPHA:1865
Genitopalatocardiac Syndrome	Cryptorchidism, Hydrocephalus, Multicystic kidney dysplasia, Hypospadias	ORPHA:2075
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hydrocephalus, Osteopetrosis, Lateral ventricle dilatation	OMIM:612301
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Delayed epiphyseal ossification, Flexion contracture, Hydrocephalus, Joint hypermobility	OMIM:616007
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Decreased testicular size, Hypocalcemic seizures	ORPHA:93325
Walker-Warburg Syndrome	Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly	ORPHA:899
Alexander Disease	Osteopenia, Ataxia, Aqueductal stenosis, Hydrocephalus, Gait disturbance	ORPHA:58
7Q11.23 Microduplication Syndrome	Ventriculomegaly, Hypospadias, Craniosynostosis, Unilateral renal agenesis, Cryptorchidism, Hydro...	ORPHA:96121
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Achondroplasia	Hydrocephalus, Knee joint hypermobility, Limited elbow extension, Hip joint hypermobility	ORPHA:15
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Hydrocephalus, Hypospadias	OMIM:601499
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypospadias, Renal salt wasting, Cryptorchidism, Azoospermia, Decreased fertility in males, Decre...	ORPHA:90791
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Hyperkalemia, Elevated circulating creatinine concentration, Melena, Hyperphosphatemia	ORPHA:340
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:615219
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Pseudotrisomy 13 Syndrome	Encephalocele, Renal agenesis, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Holoprosencephaly...	OMIM:264480
Medulloblastoma	Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cerebellar ataxia associated wit...	ORPHA:616
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Osteogenesis Imperfecta	Osteopenia, Ventriculomegaly, Ataxia, Recurrent fractures, Fractures of the long bones, Osteoarth...	ORPHA:666
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus	OMIM:187600
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe kidney, Aplasia of the...	OMIM:612284
Familial Hypoaldosteronism	Decreased urinary potassium, Proximal renal tubular acidosis, Renal salt wasting	ORPHA:427
Coccidioidomycosis	Renal insufficiency, Osteomyelitis, Abnormality of the kidney, CSF pleocytosis, Hydrocephalus, Os...	ORPHA:228123
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Hydrocephalus, Ureteral agenesis, Stillbirth, Bil...	OMIM:617667
Symptomatic Form Of Hfe-Related Hemochromatosis	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Abno...	ORPHA:465508
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Communicating hydrocephalus, Recurrent urinary tract infections, Ataxia...	ORPHA:309282
Iniencephaly	Encephalocele, Renal agenesis, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal...	ORPHA:63259
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypercalciuria	OMIM:242050
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Hydrocephalus, Renal c...	OMIM:257300
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Pelvic kidney, Hydronephrosis, Dandy-Walker malformation	OMIM:613001
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Hydrocephalus, Craniosynostosis, Lateral ventricular asy...	OMIM:616914
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Pfeiffer Syndrome Type 2	Tracheomalacia, Hydrocephalus, Limitation of joint mobility, Aqueductal stenosis	ORPHA:93259
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus, Craniosynostosis	ORPHA:1555
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Renal neoplasm, Multiple joint contractures, Recurrent fractures, Craniosynostosis, H...	ORPHA:536467
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Nephrocalcinosis, Aminoaciduria, Ataxia	OMIM:616084
Endocrine-Cerebroosteodysplasia	Hypospadias, Cryptorchidism, Hydrocephalus, Microphallus, Holoprosencephaly, Enlarged kidney, Ven...	OMIM:612651
Chromosome 17P13.1 Deletion Syndrome	Joint laxity, Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, H...	OMIM:613776
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalciuria, Hypocalciuria, Nephrolithiasis	OMIM:145980
Bartter Syndrome Type 4	Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki...	ORPHA:89938
Beare-Stevenson Cutis Gyrata Syndrome	Hypospadias, Craniosynostosis, Hydrocephalus, Limited elbow extension, Ventriculomegaly	OMIM:123790
Aymé-Gripp Syndrome	Proteinuria, Craniosynostosis, Cryptorchidism, Hydrocephalus, Limitation of joint mobility, Radio...	ORPHA:1272
Fanconi Anemia	Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Spina bifida, ...	ORPHA:84
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Renal salt wasting, Long penis, Irregular menstruation, Testicular adrenal rest tumor, Increased ...	ORPHA:90795
Monosomy 18Q	Bilateral cryptorchidism, Hydrocephalus, Choreoathetosis, Micropenis, Joint hypermobility	ORPHA:1600
Oculoskeletodental Syndrome	Renal agenesis, Cryptorchidism, Elbow flexion contracture, Hypercalciuria, Mucopolysacchariduria	OMIM:618440
Shprintzen-Goldberg Syndrome	Osteopenia, Communicating hydrocephalus, Camptodactyly of finger, Craniosynostosis, Joint stiffne...	ORPHA:2462
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Splenomegaly, Hyperglycinemia, Increased total iro...	ORPHA:309854
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Dural Sinus Malformation	Myelopathy, Hydrocephalus, Ataxia	ORPHA:97339
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint laxity, Spastic ataxia, Inability to walk, Lateral ventricle dilatation, Normal pressure hy...	ORPHA:300570
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst...	OMIM:619895
Laurin-Sandrow Syndrome	Cryptorchidism, Hydrocephalus, Limitation of joint mobility, Tarsal synostosis	ORPHA:2378
Pentalogy Of Cantrell	Encephalocele, Hypospadias, Renal agenesis, Hydrocephalus, Anencephaly, Renal dysplasia	ORPHA:1335
Corticosteroid-Binding Globulin Deficiency	Decreased urinary potassium	OMIM:611489
Addison Disease	Primary testicular failure, Premature ovarian insufficiency, Decreased female libido, Renal salt ...	ORPHA:85138
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Hydrocephalus, Hydronephrosis	OMIM:115150
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus trac...	OMIM:600145
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Hajdu-Cheney Syndrome	Osteopenia, Hypospadias, Recurrent fractures, Hydrocephalus, Osteoporosis, Osteolysis, Joint hype...	ORPHA:955
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Hydrocephalus, Joint hyperflexibility, Vesicoureteral reflux, Hydronephrosis	ORPHA:250989
Lhermitte-Duclos Disease	Hydrocephalus, Ataxia	ORPHA:65285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, C...	OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Flexion contracture, Holoprosencephaly	OMIM:253800
Cockayne Syndrome A	Hip contracture, Renal insufficiency, Ataxia, Proteinuria, Cryptorchidism, Limitation of joint mo...	OMIM:216400
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Hydrocephalus, Craniofacial osteosclerosis, Spina bifida occulta, S...	OMIM:300373
Late-Onset Familial Hypoaldosteronism	Renal sodium wasting	ORPHA:556037
Vacterl With Hydrocephalus	Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Cryptorchidism, Hydr...	ORPHA:3412
Cousin Syndrome	Hydrocephalus, Humeroradial synostosis, Camptodactyly, Hydranencephaly, Joint contracture of the ...	OMIM:260660
Neurooculorenal Syndrome	Hypoplasia of the bladder, Unilateral renal agenesis, Aqueductal stenosis, Cryptorchidism, Hydroc...	OMIM:620305
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorp...	OMIM:145981
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Multicystic kidney dyspla...	OMIM:615287
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Ataxia, Hemolytic-uremic syndrome, Hydrocephalus,...	ORPHA:79282
Early-Onset Familial Hypoaldosteronism	Renal sodium wasting	ORPHA:556030
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Lateral ventricle dilatation	OMIM:612863
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Renal tubular acidosis, Lateral ventricle dilatation, Dilated third ventricle, Joi...	OMIM:619575
Sturge-Weber Syndrome	Hyperostosis, Hydrocephalus	ORPHA:3205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Congenital contracture, Hydrocephalus, Ventriculomegaly	OMIM:613150
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydroc...	ORPHA:2166
Trichohepatoenteric Syndrome 1	Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hypermethion...	OMIM:222470
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Proteinuria, Cryptorchidism, Hydrocephalus, Spinal dysraphism...	ORPHA:2162
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Craniosynostosis, Hypercalciuria, Renal cyst, Nephrocalcinosis, Congenital megaureter...	ORPHA:369837
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Ectopic kidney, Cry...	OMIM:227646
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Anencephaly, Renal hypoplasia, Holoprosencephaly, Neonatal death, Cystic renal dys...	OMIM:269860
Cole-Carpenter Syndrome	Communicating hydrocephalus, Joint hyperflexibility, Recurrent fractures	ORPHA:2050
Achondroplasia	Generalized joint laxity, Limited elbow extension, Limited hip extension, Hydrocephalus	OMIM:100800
Mucopolysaccharidosis Type 1	Hydrocephalus, Mucopolysacchariduria, Joint stiffness	ORPHA:579
Hurler Syndrome	Hydrocephalus, Limitation of joint mobility, Camptodactyly of finger, Mucopolysacchariduria	ORPHA:93473
Rabin-Pappas Syndrome	Tracheomalacia, Hydrocephalus	OMIM:620155
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus, Joint hyperflexibility, Vesicoureteral reflux, Bifid ureter	ORPHA:1571
Stromme Syndrome	Hydrocephalus, Stillbirth, Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Dubowitz Syndrome	Hypospadias, Craniosynostosis, Cryptorchidism, Hydrocephalus, Joint hyperflexibility, Spina bifid...	ORPHA:235
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Polycystic kidney dysplasia, Occipital meningocele, Micropenis, Ventr...	OMIM:616546
Opitz-Kaveggia Syndrome	Multiple joint contractures, Hypospadias, Cryptorchidism, Hydrocephalus, Camptodactyly, Joint con...	OMIM:305450
Hypoplasminogenemia	Nephrolithiasis, Cervicitis, Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Apert Syndrome	Hydrocephalus, Cervical C5/C6 vertebrae fusion, Ventriculomegaly	ORPHA:87
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Craniosynostosis, Hydrocephalus, Dandy-Walker malformation	OMIM:605627
Cryptococcosis	Hydrocephalus, Osteomyelitis, Prostatitis, Osteolysis	ORPHA:1546
Bartter Syndrome, Type 5, Antenatal, Transient	Hypercalciuria, Medullary nephrocalcinosis, Polyuria	OMIM:300971
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Acute Adrenal Insufficiency	Decreased urinary potassium, Renal insufficiency, Decreased female libido, Renal salt wasting	ORPHA:95409
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus	ORPHA:974
Tetrasomy 5P	Hydrocephalus	ORPHA:3309
Koolen-De Vries Syndrome Due To A Point Mutation	Joint laxity, Ventriculomegaly, Recurrent urinary tract infections, Hypospadias, Craniosynostosis...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint laxity, Ventriculomegaly, Recurrent urinary tract infections, Hypospadias, Craniosynostosis...	ORPHA:363958
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Marshall-Smith Syndrome	Decreased hip abduction, Large sternal ossification centers, Recurrent fractures, Craniosynostosi...	OMIM:602535
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Polyuria	OMIM:613677
Ciliary Dyskinesia, Primary, 1	Male infertility, Communicating hydrocephalus	OMIM:244400
Dextrocardia	Hydrocephalus, Abnormal renal morphology, Abnormality of the ureter	ORPHA:1666
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Ureteral triplication, Hydronephrosis	OMIM:104350
Pseudoaminopterin Syndrome	Sagittal craniosynostosis, Limited elbow movement, Cryptorchidism, Hydrocephalus, Horseshoe kidne...	ORPHA:221120
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Hydrocephalus, Ventriculomegaly	OMIM:613603
Cockayne Syndrome B	Renal insufficiency, Ataxia, Proteinuria, Cryptorchidism, Limitation of joint mobility, Osteoporo...	OMIM:133540
Thoracoabdominal Syndrome	Hydrocephalus, Renal agenesis, Anencephaly, Hypospadias	OMIM:313850
Jacobsen Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Flexion contracture, Holoprosencephaly	OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:614643
Mucopolysaccharidosis, Type Vi	Joint stiffness, Hydrocephalus, Flexion contracture, Dermatan sulfate excretion in urine, Cervica...	OMIM:253200
Basal Cell Nevus Syndrome 1	Vertebral fusion, Hydrocephalus, Irregular ossification of hand bones, Spina bifida	OMIM:109400
Cranioectodermal Dysplasia 1	Joint laxity, Sagittal craniosynostosis, Renal magnesium wasting, Chronic kidney disease, Osteopo...	OMIM:218330
Monosomy 9Q22.3	Joint hyperflexibility, Hydrocephalus, Nephroblastoma, Ventriculomegaly	ORPHA:77301
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hypogonadotropic hypogonadism, Abnormality of the menstrual cycle, Renal salt wasting, Long penis...	ORPHA:90794
Campomelic Dysplasia	Joint laxity, Poorly ossified cervical vertebrae, Absent sternal ossification, Hypospadias, Spina...	OMIM:114290
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Ataxia	ORPHA:220295
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Cryptorchidism, Myelomeningocele, Hydr...	OMIM:258040
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hypoplasia of the bladder, R...	OMIM:249000
Craniopharyngioma	Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Increased susceptibility to fractures	ORPHA:54595
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Fetal pyelectasis, Arthrogryposis multiplex c...	OMIM:619512
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Cardiofaciocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Hydronephrosis	ORPHA:1340
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo...	ORPHA:84064
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Penoscrotal hypospadias, Hyposp...	OMIM:270400
Trisomy 8P	Multiple joint contractures, Cryptorchidism, Fetal pyelectasis, Hydrocephalus, Nephrocalcinosis, ...	ORPHA:264450
Familial Hyperaldosteronism Type Iii	Hypercalciuria	ORPHA:251274
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Shoulder flexion contracture, Cryptorchidism, Delayed epiphyseal ossification, F...	OMIM:210710
Helix Syndrome	Nephrolithiasis, Renal insufficiency, Hypocalciuria, Polyuria	OMIM:617671
Fetal Akinesia Deformation Sequence 1	Hip contracture, Elbow contracture, Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Conge...	OMIM:208150
Thakker-Donnai Syndrome	Communicating hydrocephalus, Cervical C2/C3 vertebral fusion, Hydronephrosis	ORPHA:1780
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hydrocephalus, Hematuria, Multiple renal cysts, Renal ang...	ORPHA:538
Meckel Syndrome	Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Cryptorchidism, Hydrocephalus,...	ORPHA:564
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Hydrocephalus, Ectopic kidney	ORPHA:268249
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Hypospadias, Cryptorchidism, Hydrocephalus, Micropenis, ...	ORPHA:163979
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Joint laxity, Broad-based gait, Osteomyelitis, Ataxia, Hypospadias, Hydrocephalus, Hematuria, Tip...	OMIM:619475
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Gout, Tubulointerstitial nephriti...	ORPHA:358
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Hydrocephalus, Colpocephaly, Chordee, Micropenis	OMIM:309801
Primary Unilateral Adrenal Hyperplasia	Increased urinary potassium	ORPHA:231580
Microphthalmia With Limb Anomalies	Tarsal synostosis, Cryptorchidism, Hydrocephalus, Horseshoe kidney, Joint hyperflexibility, Campt...	ORPHA:1106
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Hydrocephalus, Ventriculomegaly, Joint hypermobility	ORPHA:457284
Meningioma	Hypogonadotropic hypogonadism, Ataxia, Urinary incontinence, Hydrocephalus, Impotence, Difficulty...	ORPHA:2495
22Q11.2 Deletion Syndrome	Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Renal hypoplasia, Multiple...	ORPHA:567
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Communicating hydrocephalus, Limitation of joint mobility, Gait ataxia, Difficulty ...	ORPHA:457359
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Increased urinary potassium	ORPHA:231625
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s...	ORPHA:573278
Williams Syndrome	Osteopenia, Hypoplasia of penis, Dysmetria, Abnormal tubulointerstitial morphology, Nephrocalcino...	ORPHA:904
Lysosomal Acid Lipase Deficiency	Hypernatriuria, Abnormal urine potassium concentration, Renal salt wasting	ORPHA:275761
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia, Ataxia	ORPHA:168577
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype...	ORPHA:73224
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Communicating hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:617011
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Flexion contracture, Renal hypoplasia, Hypoplasia of the ovary, Micropenis, Decrea...	OMIM:619321
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Acrofacial Dysostosis 1, Nager Type	Unilateral renal agenesis, Aqueductal stenosis, Hydrocephalus, Radioulnar synostosis, Limited elb...	OMIM:154400
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Fanconi Anemia, Complementation Group L	Hydrocephalus, Renal hypoplasia, Unilateral renal agenesis, Micropenis	OMIM:614083
Orofaciodigital Syndrome I	Myelomeningocele, Proteinuria, Hydrocephalus, Polycystic kidney dysplasia	OMIM:311200
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Cryptorchidism, Hydrocephalus, Horseshoe kid...	ORPHA:3310
Mohr Syndrome	Hydrocephalus	OMIM:252100
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Lower limb dysmetria, Renal hypoplasia/aplasia, Hydrocephalus, Bone cyst, Abnormal renal morpholo...	ORPHA:363700
Heterotaxy, Visceral, 1, X-Linked	Renal agenesis, Block vertebrae, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Horseshoe ...	OMIM:306955
Multiple Endocrine Neoplasia Type 2	Joint laxity, Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Nephro...	ORPHA:653
Mend Syndrome	Cryptorchidism, Hydrocephalus, Crossed fused renal ectopia, Dandy-Walker malformation	OMIM:300960
Baller-Gerold Syndrome	Abnormality of the kidney, Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, H...	OMIM:218600
Distal 22Q11.2 Microduplication Syndrome	Camptodactyly of finger, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Camptodactyly ...	ORPHA:261337
Neurofibromatosis Type 1	Ataxia, Recurrent fractures, Abnormality of the upper urinary tract, Joint stiffness, Cryptorchid...	ORPHA:636
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Recurrent urinary tract infections, Hypogonadotropic hypogonadism, Camptodactyly of f...	ORPHA:3455
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus, Hypogonadotropic hypogonadism	ORPHA:91350
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Neurogenic bladder	ORPHA:137667
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Hydrocephalus, Limb ataxia, Azoospermia, Ventriculomegaly	ORPHA:2072
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus, Unsteady gait	ORPHA:637
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Noncommunicating hydrocep...	ORPHA:805
Fontaine Progeroid Syndrome	Craniosynostosis, Cryptorchidism, Hydrocephalus, Micropenis, Neonatal death, Coronal craniosynost...	OMIM:612289
Otopalatodigital Syndrome, Type Ii	Hypospadias, Elbow contracture, Spina bifida, Cryptorchidism, Hydrocephalus, Sclerosis of skull b...	OMIM:304120
Yunis-Varon Syndrome	Absent sternal ossification, Hypospadias, Cryptorchidism, Hydrocephalus, Renovascular hypertensio...	ORPHA:3472
Costello Syndrome	Hyperextensibility of the finger joints, Renal insufficiency, Limited elbow movement, Achilles te...	OMIM:218040
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Renal artery stenosis, Spina bifida	OMIM:162200
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Recurrent urinary tract infections, Renal insufficiency, Flexion contra...	OMIM:194050
Wolf-Hirschhorn Syndrome	Vertebral fusion, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal sternal ossification, Radi...	OMIM:194190
Limb Body Wall Complex	Encephalocele, Abnormality of the kidney, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph...	ORPHA:2369
Holoprosencephaly 9	Cryptorchidism, Hydrocephalus, Holoprosencephaly, Micropenis	OMIM:610829
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Dark urine, Renal insufficiency, Aqueductal stenosis, Hydrocephalus, Dilatation of th...	OMIM:619534
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Hypercalciuria	OMIM:557000
Multiple Endocrine Neoplasia Type 1	Osteolysis, Nephrolithiasis, Increased susceptibility to fractures, Reduced bone mineral density,...	ORPHA:652
Mend Syndrome	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	ORPHA:401973
Fraser Syndrome 1	Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Myelomeningocele, Hydroceph...	OMIM:219000
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus, Enlarged kidney	OMIM:261740
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Limitation of joint mobility, Abnormal epiphyseal ossification, Cont...	ORPHA:580
Histiocytoid Cardiomyopathy	Hydrocephalus, Renal cyst	ORPHA:137675
Loeys-Dietz Syndrome 1	Joint laxity, Hydrocephalus, Craniosynostosis, Camptodactyly	OMIM:609192
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Cryptorchidism, H...	OMIM:107480
Gaisböck Syndrome	Nephrocalcinosis, Hypernatriuria, Gout	ORPHA:90041
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Recurrent urinary tract infections, Crossed fused renal ectopia, Hyp...	OMIM:619841
Semilobar Holoprosencephaly	Inability to walk, Neural tube defect, Hydrocephalus, Flexion contracture	ORPHA:220386
Alobar Holoprosencephaly	Inability to walk, Neural tube defect, Hydrocephalus, Flexion contracture	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Inability to walk, Neural tube defect, Hydrocephalus, Flexion contracture	ORPHA:93926
Lobar Holoprosencephaly	Inability to walk, Neural tube defect, Hydrocephalus, Flexion contracture	ORPHA:93924
Loeys-Dietz Syndrome 2	Joint laxity, Craniosynostosis, Hydrocephalus, Osteoporosis, Camptodactyly, Joint contracture of ...	OMIM:610168
Kabuki Syndrome 1	Ureteropelvic junction obstruction, Crossed fused renal ectopia, Cryptorchidism, Hydrocephalus, L...	OMIM:147920
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Flexion contracture, Long penis, Truncal ataxia, Dand...	OMIM:264090
Focal Dermal Hypoplasia	Joint laxity, Ureteral duplication, Cryptorchidism, Hydrocephalus, Myelomeningocele, Horseshoe ki...	OMIM:305600
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Hypercalciuria, Renal dysplasia, Joint hypermobility	OMIM:300990
Roberts-Sc Phocomelia Syndrome	Hypospadias, Craniosynostosis, Ankle flexion contracture, Cryptorchidism, Hydrocephalus, Frontal ...	OMIM:268300
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Hydrocephalus, Abnormal testis morphology	ORPHA:2556
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto...	ORPHA:709
Peters-Plus Syndrome	Joint laxity, Ureteral duplication, Hypospadias, Craniosynostosis, Limited elbow movement, Crypto...	OMIM:261540
Sarcoidosis	Renal insufficiency, Abnormal cerebrospinal fluid morphology, Bone cyst, Nephrolithiasis, Hyperca...	ORPHA:797
Tetraamelia Syndrome 1	Urethral atresia, Hydrocephalus, Renal agenesis	OMIM:273395
Sarcoidosis, Susceptibility To, 1	Arthritis, Bone cyst, Hypercalciuria	OMIM:181000
Chromosome 1P36 Deletion Syndrome, Distal	Hypospadias, Camptodactyly of finger, Ectopic kidney, Cryptorchidism, Hydrocephalus, Lateral vent...	OMIM:607872
Simpson-Golabi-Behmel Syndrome, Type 1	Hypospadias, Cryptorchidism, Hydrocephalus, Renal cyst, Duplication of renal pelvis, Two carpal o...	OMIM:312870
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cryptorchidism, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Mul...	ORPHA:116
Coffin-Siris Syndrome 12	Joint laxity, Hypospadias, Cryptorchidism, Noncommunicating hydrocephalus, Horseshoe kidney, Radi...	OMIM:619325
Hydrolethalus Syndrome 1	Hypospadias, Anencephaly, Stillbirth, Severe hydrocephalus, Hydronephrosis, Dandy-Walker malforma...	OMIM:236680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Cystic Fibrosis	Male infertility, Hypercalciuria	OMIM:219700
Leprechaunism	Nephrocalcinosis, Long penis, Hypercalciuria, Enlarged kidney	ORPHA:508
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Block vertebrae, Renal agenesis, Ectopic k...	OMIM:164210
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nherf1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nherf1.

No publications found that use IMPC mice or data for Nherf1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Nherf1^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Nherf1^em1(IMPC)H	Indel	Mice
Nherf1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Nherf1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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