Phenotype #0000310503

Individual ID 00419216
Associated disease OFD1
Phenotype details delivered by caesarean section at 32 weeks of gestation; pregnancy complicated by polyhydramnios, intrauterine growth retardation, and congenital heart defects; birth weight: 1704 g (-0.2 SD), length: 40.0 cm (-0.8 SD), and occipital frontal circumference: 33.3 cm (+2.0 SD); admitted to a NICU because of respiratory insufficiency, and received mechanical ventilation; craniofacial features: a prominent forehead, hypertelorism, dysplastic ears, a small cleft lip, and a soft cleft palate; ultrasonography: hydrocephalus with Dandy-Walker malformation and hypoplastic left heart syndrome; died 1 day after birth; autopsy findings: agenesis of the cerebellar vermis, enlargement of the fourth ventricle and aqueduct, anomalous positioning of the esophagus, mild pulmonary congestion, and insufficient lobulation of the right lung
Diagnosis/Initial -
Inheritance Familial, X-linked
Diagnosis/Definite orofaciodigital syndrome, type I (OFD-1)
Age/Examination 00y00m01d (1 day)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-10-18 20:40:57 +02:00 (CEST)
Date last edited 2022-10-19 11:14:17 +02:00 (CEST)

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