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Ontology Browser
Term:
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (DOID:0081263)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +   
3p deletion syndrome  
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs  
Absent Eyebrows and Eyelashes with Mental Retardation 
achalasia microcephaly syndrome 
Adams Nance Syndrome 
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
AIDS-Associated Nephropathy  
Al-Raqad Syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alpha-B Crystallinopathy with Cataract 
Alsing Syndrome 
Amish Lethal Microcephaly  
aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
anuria +   
Aphalangia Syndactyly Microcephaly 
apolipoprotein A-IV associated amyloidosis 
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation 
Arboleda-Tham syndrome  
Arnold Stickler Bourne Syndrome 
Asparagine Synthetase Deficiency  
Ataxia-Microcephaly-Cataract Syndrome 
atheroembolism of kidney 
autoimmune interstitial lung, joint, and kidney disease  
autosomal dominant microcephaly +   
autosomal recessive intellectual developmental disorder 1  
autosomal recessive intellectual developmental disorder 10/20 
autosomal recessive intellectual developmental disorder 11 
autosomal recessive intellectual developmental disorder 12  
autosomal recessive intellectual developmental disorder 13  
autosomal recessive intellectual developmental disorder 14  
autosomal recessive intellectual developmental disorder 16 
autosomal recessive intellectual developmental disorder 18  
autosomal recessive intellectual developmental disorder 2  
autosomal recessive intellectual developmental disorder 23 
autosomal recessive intellectual developmental disorder 24  
autosomal recessive intellectual developmental disorder 25 
autosomal recessive intellectual developmental disorder 27  
autosomal recessive intellectual developmental disorder 28 
autosomal recessive intellectual developmental disorder 29 
autosomal recessive intellectual developmental disorder 3  
autosomal recessive intellectual developmental disorder 30 
autosomal recessive intellectual developmental disorder 31 
autosomal recessive intellectual developmental disorder 33 
autosomal recessive intellectual developmental disorder 34  
autosomal recessive intellectual developmental disorder 35 
autosomal recessive intellectual developmental disorder 37  
autosomal recessive intellectual developmental disorder 38  
autosomal recessive intellectual developmental disorder 39  
autosomal recessive intellectual developmental disorder 4 
autosomal recessive intellectual developmental disorder 40  
autosomal recessive intellectual developmental disorder 41  
autosomal recessive intellectual developmental disorder 43  
autosomal recessive intellectual developmental disorder 44  
autosomal recessive intellectual developmental disorder 45  
autosomal recessive intellectual developmental disorder 46  
autosomal recessive intellectual developmental disorder 47  
autosomal recessive intellectual developmental disorder 48  
autosomal recessive intellectual developmental disorder 5  
autosomal recessive intellectual developmental disorder 50  
autosomal recessive intellectual developmental disorder 51  
autosomal recessive intellectual developmental disorder 52  
autosomal recessive intellectual developmental disorder 54  
autosomal recessive intellectual developmental disorder 56  
autosomal recessive intellectual developmental disorder 57  
autosomal recessive intellectual developmental disorder 58  
autosomal recessive intellectual developmental disorder 59  
autosomal recessive intellectual developmental disorder 6  
autosomal recessive intellectual developmental disorder 60  
autosomal recessive intellectual developmental disorder 61  
autosomal recessive intellectual developmental disorder 63  
autosomal recessive intellectual developmental disorder 64  
autosomal recessive intellectual developmental disorder 65  
autosomal recessive intellectual developmental disorder 66  
autosomal recessive intellectual developmental disorder 67  
autosomal recessive intellectual developmental disorder 68  
autosomal recessive intellectual developmental disorder 69  
autosomal recessive intellectual developmental disorder 7  
autosomal recessive intellectual developmental disorder 70  
autosomal recessive intellectual developmental disorder 71  
autosomal recessive intellectual developmental disorder 72  
autosomal recessive intellectual developmental disorder 73  
autosomal recessive intellectual developmental disorder 74  
autosomal recessive intellectual developmental disorder 75  
autosomal recessive intellectual developmental disorder 76  
autosomal recessive intellectual developmental disorder 77  
Autosomal Recessive Intellectual Developmental Disorder 78  
Autosomal Recessive Intellectual Developmental Disorder 79  
Autosomal Recessive Intellectual Developmental Disorder 80  
Autosomal Recessive Intellectual Developmental Disorder 81  
autosomal recessive intellectual developmental disorder 82  
autosomal recessive intellectual developmental disorder 9/26 
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayme-Gripp syndrome  
Baetz-Greenwalt Syndrome 
Baralle-Macken Syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
Bassoe Syndrome 
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Bhaskar Jagannathan Syndrome 
Bifid Nose with or without Anorectal and Renal Anomalies  
BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME  
Blue Diaper Syndrome 
Boudhina Yedes Khiari syndrome 
Brachydactyly, Type A2, With Microcephaly 
Branchial Arch Syndrome X-Linked 
Bullous Dystrophy, Hereditary Macular Type 
CAHMR Syndrome 
CAKUT1  
CAMFAK Syndrome 
Capsule Opacification 
Cardiofacioneurodevelopmental Syndrome  
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 13 with adult i phenotype  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 17 multiple types  
cataract 18  
cataract 19 multiple types  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 22 multiple types  
cataract 23  
cataract 24 
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 32 multiple types 
cataract 33  
cataract 34 multiple types  
cataract 35 
cataract 36  
cataract 37 
cataract 38  
cataract 39 multiple types  
cataract 4 multiple types +   
cataract 40  
cataract 41  
cataract 42  
cataract 43  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
cataract 47  
cataract 48  
Cataract 49  
cataract 5 multiple types  
Cataract 50 with or without Glaucoma  
cataract 6 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cataract and Congenital Ichthyosis 
Cataract Ataxia Deafness 
Cataract Microcornea Syndrome  
Cataract, Age-Related Nuclear 
Cataract, Autosomal Dominant Nuclear  
Cataract, Autosomal Recessive Congenital 1  
Cataract, Congenital Dominant Non Nuclear  
Cataract, Cortical Pulverulent, Late-Onset 
Cataract, Crystalline Coralliform 
Cataract, Lamellar 2  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataract, Polymorphic and Lamellar 
Cataract, Posterior Polar, 5 
Cataract, Progressive Polymorphic Cortical 
Cataract, Pulverulent 
Cataract, Sutural, with Punctate and Cerulean Opacities  
Cataract, Variable Zonular Pulverulent 
Cataract, Zonular Central Nuclear 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis +   
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY  
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 15q26-qter deletion syndrome  
chromosome 17p13.1 deletion syndrome 
CK syndrome  
cleft palate, cardiac defects, and intellectual disabillity  
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Cohen syndrome  
Complement Factor H Deficiency  
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital muscular dystrophy with cataracts and intellectual disability  
Cornea Guttata with Anterior Polar Cataract 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Crome Syndrome 
cystic kidney disease +   
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
diabetes insipidus +   
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome  
diabetic cataract  
Diabetic Nephropathies  
dialysis-related amyloidosis 
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1  
Dimauro Disease  
dioctophymiasis 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Dubowitz syndrome  
early onset progressive encephalopathy with brain atrophy and thin corpus callosum  
EDICT Syndrome  
Ellis Yale Winter Syndrome 
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness  
familial juvenile hyperuricemic nephropathy +   
Familial Partial Lipodystrophy Type 7  
Faundes-Banka Syndrome  
Feingold syndrome +   
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES  
Filippi syndrome  
Fine-Lubinsky Syndrome  
Floriform Cataract 
Flynn Aird Syndrome 
Forsythe-Wakeling Syndrome 
foveal hypoplasia 1  
Galloway-Mowat syndrome +   
Glomerular Diseases +   
glycosylphosphatidylinositol biosynthesis defect 16  
Goldstein Hutt Syndrome 
GOMBO Syndrome 
Goodpasture syndrome +   
granulomatosis with polyangiitis +   
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Hadziselimovic Syndrome 
Halal Syndrome 
Hantavirus hemorrhagic fever with renal syndrome +   
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
hereditary spastic paraplegia 9A  
Herrmann Syndrome 
Hersh Podruch Weisskopf Syndrome 
Heyn-Sproul-Jackson Syndrome  
High Myopia with Cataract and Vitreoretinal Degeneration  
Hoyeraal Hreidarsson Syndrome  
Hydranencephaly with Renal Aplasia-Dysplasia  
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
hydronephrosis +   
hyperferritinemia-cataract syndrome  
Hyperoxaluria +   
hyperphosphatasia with impaired intellectual development syndrome +   
hypertelorism, microtia, facial clefting syndrome 
Hypertrophic Neuropathy and Cataract 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypomyelinating leukodystrophy 5  
hypophosphatemic nephrolithiasis/osteoporosis +   
Hypospadias-Mental Retardation Syndrome 
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
immunoglobulin heavy chain amyloidosis 
immunoglobulin light chain amyloidosis  
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
infantile hypotonia with psychomotor retardation and characteristic facies-3  
Infundibulopelvic Dysgenesis 
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature  
Intellectual Developmental Disorder, Autosomal Recessive 19 
Isolated Microphthalmia with Cataract 1 
Isolated Microphthalmia with Cataract 2  
Isolated Microphthalmia with Cataract 3 
Isolated Microphthalmia with Cataract 4  
ITM2B-related cerebral amyloid angiopathy 2  
Jejunal Atresia with Renal Adysplasia 
Jorgenson Lenz Syndrome 
Joubert syndrome 5  
Joubert syndrome 6  
Joubert syndrome 9  
Juberg Hayward Syndrome  
Kahrizi syndrome  
Karandikar Maria Kamble Syndrome 
Kaufman oculocerebrofacial syndrome  
kidney cortex disease +   
kidney failure +   
kidney hypertrophy 
Kidney Neoplasms +   
kidney papillary necrosis 
Kozlowski Rafinski Klicharska Syndrome 
Krasnow Qazi Syndrome 
Lachiewicz Sibley Syndrome 
Lambotte Syndrome 
Leg, Absence Deformity of, with Congenital Cataract 
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
linear skin defects with multiple congenital anomalies 2  
Lipoprotein Glomerulopathy  
lissencephaly 3 +   
lissencephaly 4  
lissencephaly 6  
Lowry Wood Syndrome  
Lubinsky Syndrome 
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus  
MacDermot Winter Syndrome 
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
Marinesco-Sjogren syndrome  
Marshall syndrome +   
Martsolf Syndrome +   
MEHMO syndrome  
Mental Retardation, Autosomal Recessive 42  
Mental Retardation, Autosomal Recessive 49  
Mental Retardation, Autosomal Recessive 53  
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
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  
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1  
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
Microphthalmia, Cataracts, and Iris Abnormalities  
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mosaic Variegated Aneuploidy Syndrome 5  
Mosaic Variegated Aneuploidy Syndrome 6  
Mousa Al din Al Nassar Syndrome 
Mowat-Wilson syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
myofibrillar myopathy 2  
Myopathy, Cataract, Hypogonadism Syndrome 
myotonic cataract 
Nabais Sa-de Vries Syndrome, Type 1  
Nance-Horan syndrome  
Nathalie Syndrome 
nephritis +   
nephrocalcinosis +   
nephrogenic diabetes insipidus +   
nephrolithiasis +   
nephrosclerosis +   
nephrotoxicity  
Neu-Laxova syndrome 1  
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY  
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY  
neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
neurodevelopmental disorder with language delay and seizures  
Neurodevelopmental Disorder with Microcephaly and Gray Sclerae  
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  
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. (DO)
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment  
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy  
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, HYPOTONIA, NYSTAGMUS, AND SEIZURES  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS  
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities  
neurodevelopmental disorder with poor growth and behavioral abnormalities  
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss  
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies  
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities  
neurodevelopmental disorder with spasticity and poor growth  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA  
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES  
NEUROOCULORENAL SYNDROME  
Nijmegen Breakage Syndrome-Like Disorder  
obstructive nephropathy  
Oculopalatocerebral Syndrome 
Oculoskeletodental Syndrome  
optic atrophy 3  
orthostatic proteinuria 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
Paine Syndrome 
palmoplantar keratoderma and congenital alopecia 2 
Partington Anderson Syndrome 
Pavone Fiumara Rizzo Syndrome 
perinephritis 
Peters Anomaly with Cataract 
PHARC syndrome  
PHGDH deficiency  
Polycystic Kidney, Cataract, and Congenital Blindness 
porencephaly +   
posterior polar cataract  
Premature Aging, Okamoto Type 
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  
pyelitis +   
Radiation Nephropathy  
Radio Renal Syndrome 
Rafiq syndrome  
Raine Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications 1  
Remitting Chorea with Nystagmus and Cataracts 
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 DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Sammartino De Crecchio Syndrome 
Say Barber Miller Syndrome 
Say Syndrome 
Schaap Taylor Baraitser Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
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  
Selig Benacerraf Greene Syndrome 
Sengers syndrome  
senile cataract +   
Seow Najjar Syndrome 
serum amyloid A amyloidosis 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
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 
Singh Chhaparwal Dhanda Syndrome 
Slavotinek Pike Mills Hurst Syndrome 
Sotos syndrome 3  
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 
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 
Spondyloocular Syndrome, Autosomal Recessive  
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
stricture or kinking of ureter 
Stromme syndrome  
syndromic microphthalmia 13  
syndromic microphthalmia 2  
syndromic microphthalmia 8 
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
Teebi Kaurah Syndrome 
Tessadori-van Haaften Neurodevelopmental Syndrome 1  
tetanic cataract 
Thrombocytopenia with Elevated Serum Iga and Renal Disease 
Thyrocerebral-Retinal Syndrome 
Total Anonychia with Microcephaly 
Trichodental Syndrome 
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME  
Tsukahara Syndrome  
uremia +   
Vici syndrome  
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome  
Webb-Dattani Syndrome  
Wellesley Carmen French Syndrome 
Wiedemann-Steiner syndrome  
Winship Viljoen Leary Syndrome 
Zaki syndrome  
Zellweger syndrome +   
Zerres Rietschel Majewski Syndrome 
Zonular Cataract and Nystagmus 

Synonyms
Exact Synonyms: NEDMCR ;   NEDMCR syndrome
Primary IDs: OMIM:617913
Alternate IDs: DOID:9002308
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/35861185/ "DO" "DO"

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