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Intrauterine growth retardation with increased mitomycin c sensitivity

MedGen UID:
419040
Concept ID:
C2931307
Disease or Syndrome
Synonyms: Intrauterine Growth Retardation with Increased Mitomycin C Sensitivity; Severe intrauterine growth retardation with increased mitomycin C sensitivity; Woods Leversha Rogers syndrome
 
Monarch Initiative: MONDO:0010900
OMIM®: 600546

Clinical features

From HPO
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Pancytopenia
MedGen UID:
18281
Concept ID:
C0030312
Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.
Abnormality of chromosome stability
MedGen UID:
1631925
Concept ID:
C4551705
Cell or Molecular Dysfunction
A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration.

Recent clinical studies

Diagnosis

Woods CG, Leversha M, Rogers JG
J Med Genet 1995 Apr;32(4):301-5. doi: 10.1136/jmg.32.4.301. PMID: 7643362Free PMC Article

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