Phenotype #0000045423

Individual ID 00058834
Associated disease MKS1
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details Presence of cystic dysplastic kidneys, occipital encephalocele, and polydactyly. In addition, post-mortem examination after pregnancy termination (23gw) disclosed a narrow bell-shaped thorax with short ribs, rhizomelic limb shortening, bowing of long bones, microphthalmia, oral-facial defects (lobulated tongue with multiple frenula and cleft soft palate), ambiguous genitalia and anal atresia. Data on liver involvement was not available.
Protein -
Owner name Enza Maria Valente
Database submission license No license selected
Created by Enza Maria Valente
Date created 2016-02-08 12:38:04 +01:00 (CET)
Date last edited 2016-02-12 02:06:28 +01:00 (CET)

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