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Ontology Browser

Term:
Neonatal Progeroid Syndrome (DOID:9008367)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
progeria +     
Acrogeria, Gottron Type 
Bird Headed Dwarfism Montreal Type 
Bowen-Conradi syndrome  
Camptodactyly Syndrome Guadalajara Type 2 
Cartwright Nelson Fryns Syndrome 
Congenital Progeroid Syndrome, Petty Type  
Craniomicromelic Syndrome 
fetal akinesia deformation sequence syndrome +   
GRACILE syndrome  
Granddad Syndrome 
Hoyeraal Hreidarsson Syndrome  
IMAGe syndrome  
IMAGEI Syndrome  
Lambotte Syndrome 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
Mandibuloacral Dysplasia Progeroid Syndrome  
Microcephalic Osteodysplastic Primordial Dwarfism +   
Neonatal Progeroid Syndrome  
Neonatal Progeroid syndrome or Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment. Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported. WDRTS is caused by compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
Neu-Laxova syndrome 1  
Penttinen-Aula Syndrome  
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Petty Laxova Wiedemann Syndrome 
Premature Aging Syndrome, Okamoto Type 
Progeria Short Stature Pigmented Nevi 
Progeria Syndrome, Childhood-Onset +   
Progeroid Facial Appearance with Hand Anomalies 
Ray Peterson Scott Syndrome 
Ruijs-Aalfs syndrome  
Ruvalcaba Churesigaew Myhre Syndrome 
Seckel syndrome 4  
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects 
Sharma Kapoor Ramji Syndrome 
Short Stature and Locking Fingers 
Silver-Russell Syndrome 3  
Thymic-Renal-Anal-Lung Dysplasia 
trichohepatoenteric syndrome +   
Woods Leversha Rogers Syndrome 
X-linked Microhydranencephaly 

Synonyms
Exact Synonyms: WDRTS ;   WIEDEMANN-RAUTENSTRAUCH-LIKE PROGEROID SYNDROME ;   Wiedemann-Rautenstrauch syndrome ;   neonatal pseudo-hydrocephalic progeroid syndrome
Broad Synonyms: POLR3A-RELATED NEUROLOGICAL DISORDER
Primary IDs: MESH:C536423
Alternate IDs: OMIM:264090
Xrefs: NCI:C121565
Definition Sources: OMIM:264090

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