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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
blindness +     
epilepsy +     
kidney disease +     
microcephaly +     
Muscle Spasticity +     
3p deletion syndrome  
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs  
Absent Eyebrows and Eyelashes with Mental Retardation 
achalasia microcephaly syndrome 
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
AIDS-Associated Nephropathy  
Al-Raqad Syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alcohol Withdrawal Seizures  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 
Alsing Syndrome 
Amaurosis Fugax  
Amish Lethal Microcephaly  
anuria +   
Aphalangia Syndactyly Microcephaly 
apolipoprotein A-IV associated amyloidosis 
Arboleda-Tham syndrome  
Arnold Stickler Bourne Syndrome 
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Asparagine Synthetase Deficiency  
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS  
Ataxia-Microcephaly-Cataract Syndrome 
atheroembolism of kidney 
autoimmune epilepsy 
autoimmune interstitial lung, joint, and kidney disease  
Autosomal Dominant Intellectual Developmental Disorder 60  
autosomal dominant microcephaly +   
autosomal recessive spinocerebellar ataxia 12  
Baetz-Greenwalt Syndrome 
Baraitser-Winter syndrome +   
Baralle-Macken Syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Beta-Amino Acids, Renal Transport of 
Bifid Nose with or without Anorectal and Renal Anomalies  
BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME  
Blue Diaper Syndrome 
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
Brachydactyly, Type A2, With Microcephaly 
branched-chain keto acid dehydrogenase kinase deficiency  
Branchial Arch Syndrome X-Linked 
Bullous Dystrophy, Hereditary Macular Type 
CAKUT1  
CAMFAK Syndrome 
Cardiofacioneurodevelopmental Syndrome  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Childhood-Onset Spasticity with Hyperglycinemia  
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 15q26-qter deletion syndrome  
chromosome 17p13.1 deletion syndrome 
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB  
CK syndrome  
cleft palate, cardiac defects, and intellectual disabillity  
Coffin Syndrome 1 
Cohen syndrome  
color blindness +   
Complement Factor H Deficiency  
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
cortical blindness +   
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
cystic kidney disease +   
Deaf-Blind Disorders +   
Developmental Delay, Epilepsy, and Neonatal Diabetes  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES  
diabetes insipidus +   
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome  
Diabetic Nephropathies  
dialysis-related amyloidosis 
Diaminopentanuria 
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1  
Dimauro Disease  
dioctophymiasis 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Drug Resistant Epilepsy +   
Dubowitz syndrome  
dystonia 9  
early-onset epilepsy 2  
early-onset epilepsy 3  
electroclinical syndrome +   
Ellis Yale Winter Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness  
Epilepsy Telangiectasia 
Epilepsy, Occipital Calcifications 
extratemporal epilepsy 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
familial juvenile hyperuricemic nephropathy +   
Faundes-Banka Syndrome  
Febrile Seizures +   
Feingold syndrome +   
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES  
Filippi syndrome  
Fitzsimmons Walson Mellor Syndrome 
Focal Cortical Dysplasia of Taylor +   
focal epilepsy +   
Forsythe-Wakeling Syndrome 
Galloway-Mowat syndrome +   
Generalized Epilepsy +   
Glomerular Diseases +   
Glycosylphosphatidylinositol Deficiency +   
GOMBO Syndrome 
Goodpasture syndrome +   
granulomatosis with polyangiitis +   
Gurrieri Sammito Bellussi Syndrome 
Hadziselimovic Syndrome 
Halal Syndrome 
Halperin-Birk Syndrome  
Hantavirus hemorrhagic fever with renal syndrome +   
Hemianopsia 
Hengel-Maroofian-Schols syndrome  
Herrmann Syndrome 
Hersh Podruch Weisskopk Syndrome 
Heyn-Sproul-Jackson Syndrome  
Hoyeraal Hreidarsson Syndrome  
Hydranencephaly with Renal Aplasia-Dysplasia  
hydronephrosis +   
Hyperoxaluria +   
hypertelorism, microtia, facial clefting syndrome 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypophosphatemic nephrolithiasis/osteoporosis +   
Hypospadias-Mental Retardation Syndrome 
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
immunoglobulin heavy chain amyloidosis 
immunoglobulin light chain amyloidosis  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Infundibulopelvic Dysgenesis 
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature  
intellectual developmental disorder with autistic features and language delay, with or without seizures  
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures  
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
Intellectual Developmental Disorder with Seizures and Language Delay  
Jejunal Atresia with Renal Adysplasia 
Jorgenson Lenz Syndrome 
Joubert syndrome 5  
Joubert syndrome 6  
Joubert syndrome 9  
Juberg Hayward Syndrome  
Kaufman oculocerebrofacial syndrome  
kidney cortex disease +   
kidney failure +   
kidney hypertrophy 
Kidney Neoplasms +   
kidney papillary necrosis 
Kifafa Seizure Disorder 
KINSSHIP syndrome  
Kohlschutter-Tonz syndrome  
Koone Rizzo Elias Syndrome 
Lachiewicz Sibley Syndrome 
Lambotte Syndrome 
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome  
linear skin defects with multiple congenital anomalies 2  
Lipoprotein Glomerulopathy  
lissencephaly 3 +   
lissencephaly 4  
lissencephaly 6  
Lowry Wood Syndrome  
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus  
MacDermot Winter Syndrome 
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
MEHMO syndrome  
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Methylenetetrahydrofolate Reductase Deficiency  
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
Microcephaly Deafness Syndrome 
Microcephaly Microphthalmos Blindness 
Microcephaly Nonsyndromal 
Microcephaly Pontocerebellar Hypoplasia Dyskinesia 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Cervical Spine Fusion Anomalies 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly with Simplified Gyral Pattern  
Microcephaly with Spastic Quadriplegia 
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis  
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME  
Microcephaly, Epilepsy, and Diabetes Syndrome +   
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
microcephaly, growth deficiency, seizures, and brain malformations  
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +   
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
microcephaly, seizures, and developmental delay  
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mosaic Variegated Aneuploidy Syndrome 5  
Mosaic Variegated Aneuploidy Syndrome 6  
Mowat-Wilson syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Myoclonic Epilepsies +   
Myopathy, Epilepsy, and Progressive Cerebral Atrophy  
Nabais Sa-de Vries Syndrome, Type 1  
nephritis +   
nephrocalcinosis +   
nephrogenic diabetes insipidus +   
nephrolithiasis +   
nephrosclerosis +   
nephrotoxicity  
Neu-Laxova syndrome 1  
NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT  
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES  
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY  
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY  
NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY  
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures  
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY  
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities  
neurodevelopmental disorder with hypotonia and speech delay  
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language  
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS  
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES  
neurodevelopmental disorder with language delay and seizures  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities  
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment  
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS  
NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM  
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY  
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies  
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities  
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures  
Neurodevelopmental Disorder with Seizures and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH  
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements  
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES  
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM  
neurodevelopmental disorder with spasticity and poor growth  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS  
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES  
NEUROOCULORENAL SYNDROME  
Nijmegen Breakage Syndrome-Like Disorder  
Norrie disease  
obstructive nephropathy  
Oculopalatocerebral Syndrome 
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME  
Opticocochleodentate Degeneration 
orthostatic proteinuria 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
Paine Syndrome 
Partington Anderson Syndrome 
perinephritis 
PHGDH deficiency  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
Pitt-Hopkins syndrome +   
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Polycystic Kidney, Cataract, and Congenital Blindness 
polyhydramnios, megalencephaly, and symptomatic epilepsy  
porencephaly +   
Post-Traumatic Epilepsy 
Powell Venencie Gordon syndrome 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
primary microcephaly +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
proteinuria +   
PSAT deficiency  
pseudo-TORCH syndrome 1  
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pyelitis +   
pyridoxamine 5'-phosphate oxidase deficiency  
pyridoxine-dependent epilepsy +   
Radiation Nephropathy  
Radio Renal Syndrome 
Raine Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications 1  
Ramon Syndrome 
renal agenesis +   
renal artery disease +   
renal artery obstruction +   
Renal Dysplasia - Limb Defects Syndrome 
renal fibrosis +   
renal hypertension +   
renal hypoplasia +   
renal infectious disease 
Renal Ischemia  
Renal Nutcracker Syndrome 
renal osteodystrophy  
renal tuberculosis  
Renal Tubular Dysgenesis +   
renal tubular transport disease +   
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 
Retinal Aplasia 
Retinal Degeneration and Epilepsy 
Rodrigues Blindness 
Rud Syndrome 
salt and pepper syndrome  
Sammartino De Crecchio Syndrome 
Sandhaus Ben-Ami Syndrome 
Say Barber Miller Syndrome 
Say Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Scoliosis, Arachnodactyly, and Blindness 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
secondary hyperparathyroidism of renal origin 
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
Seizures, Cortical Blindness, and Microcephaly Syndrome  
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS  
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
Selig Benacerraf Greene Syndrome 
serum amyloid A amyloidosis 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects 
Short Stature and Microcephaly with Genital Anomalies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Siegler Brewer Carey Syndrome 
Silengo Lerone Pelizza Syndrome 
spastic ataxia +   
spastic paraplegia with deafness 
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
spastic tetraplegia, thin corpus callosum, and progressive microcephaly  
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
Spinocerebellar Ataxia with Epilepsy  
spondyloepimetaphyseal dysplasia, Genevieve-type  
status epilepticus +   
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
stricture or kinking of ureter 
Stromme syndrome  
syndromic microphthalmia 13  
syndromic microphthalmia 8 
syndromic X-linked intellectual disability Hedera type  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
syndromic X-linked intellectual disability Turner type  
Teebi Kaurah Syndrome 
Tessadori-van Haaften Neurodevelopmental Syndrome 1  
Thrombocytopenia with Elevated Serum Iga and Renal Disease 
Thyrocerebral-Retinal Syndrome 
Total Anonychia with Microcephaly 
Trichodental Syndrome 
Tsukahara Syndrome  
uremia +   
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE  
visual epilepsy +   
visual impairment and progressive phthisis bulbi  
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome  
Webb-Dattani Syndrome  
An autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency due to hypoplastic development of these brain regions. Patients present soon after birth with multiple pituitary hormonal deficiencies and subsequently develop microcephaly, seizures, and spasticity. Other features include postretinal blindness and renal abnormalities.
Wiedemann-Steiner syndrome  
Winship Viljoen Leary Syndrome 
Wittwer Syndrome  
X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features  
X-linked epilepsy with variable learning disabilities and behavior disorders  
X-linked intellectual disability-psychosis-macroorchidism syndrome  
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Zaki syndrome  
Zellweger syndrome +   
Zerres Rietschel Majewski Syndrome 

Synonyms
Exact Synonyms: WEDAS ;   hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies
Primary IDs: OMIM:615926
Definition Sources: OMIM:615926

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