1p35.2 microdeletion syndrome
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Sign InDescription
A very rare, chromosomal anomaly characterized by an intrauterine and postanatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia,and a recognisable facial dysmorphism including prominenet forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.
Mode of Inheritance
VARIANTS
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