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Xerosis and growth failure with immune and pulmonary dysfunction syndrome(XGIP)

MedGen UID:
1052252
Concept ID:
CN374328
Disease or Syndrome
Synonyms: XGIP; XGIP SYNDROME
 
Gene (location): DBR1 (3q22.3)
 
Monarch Initiative: MONDO:0957786
OMIM®: 620510

Definition

Xerosis and growth failure with immune and pulmonary dysfunction syndrome (XGIP) is characterized by premature birth, intrauterine and postnatal growth retardation, and collodion membrane or collodion-like skin at birth with dry skin thereafter. Patients also exhibit bronchopulmonary disease and thrombocytopenia and neutropenia. Variable features include cardiac anomalies, seizures, encephalopathy, and cholestasis, and cataract has been observed. Affected individuals die within the first year of life (Shamseldin et al., 2023). [from OMIM]

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