Global Variome shared LOVD

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Phenotype #0000298402 Individual ID 00405905 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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