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Egyptian Journal of Medical Human Genetics

Table 2 Frequency of the most common manifestation among cases

From: Detection of some metabolic disorders in suspected neonates admitted at Assiut University Children Hospital

Symptoms

• Poor suckling

122 (61%)

• Respiratory distress

114 (57%)

• Convulsion

108 (54%)

• Vomiting

104 (52%)

• Sibling affected*

60 (30%)

• Disturbed conscious level

58 (29%)

Signs

• Delay capillary refill time

44 (22%)

• Hepatomegaly

12 (6%)

• Splenomegaly

8 (4%)

• Jaundice

108 (58%)

  1. *Sibling affected in the affected families means that this family had another newborn that had the same manifestations and findings, and in some families, they had the same diagnosis
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