Global Variome shared LOVD

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Phenotype #0000298401 Individual ID 00405904 Associated disease - Phenotype details Pallister–Hall syndrome; midline notched upper lip, alveolar ridge overgrowth, high palate, extra frenula, a malformed epiglottis with a midline cleft, and a notched tongue tip; His limb findings were remarkable for mild rhizomelic shortening, bilateral postaxial polydactyly with partial cutaneous syndactyly of fingers 4-5, bilateral preaxial polydactyly with partial cutaneous syndactyly of toes 2-3, broadened metatarsals, short fingers and toes, and small nails Diagnosis/Initial Joubert and oral–facial–digital overlap syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 3d Phenotype/Onset sparse scalp hair and eyebrows, underdeveloped supraorbital ridges, apparently widely spaced eyes with epicanthal folds, a wide and mildly depressed nasal bridge, a broad nasal tip, and retrognathia Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-03-23 03:47:23 +01:00 (CET) Date last edited N/A

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