Global Variome shared LOVD

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Phenotype #0000038735 Individual ID 00052116 Associated disease KLEFS Intellectual_dis severe Diagnosis/Initial - Phenotype details 9q subtelomeric deletion syndrome; no obesity, no microcephaly, brachycephaly, flat face, midface hypoplasia, coarse facies, hypertelorism, no synophrys, no downslant palpebral fissures, upslant palpebral fissures, no arched eyebrows, short nose, anteverted nostrils, no carp mouth/tented lip, no macroglossia/tongue protrusion, no natal teeth, thick/everted lower lip, no pointed chin/prognathism, malformed ears, brachydactyly, simian crease, abnormal genitals (males), no cardiac anomaly, no anal atresia, no alopecia, depigmentation, no renal cysts, no hydronephrosis, behavioral problems, no sleep disturbances, no hearing loss, hypotonia, no seizures Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-10-16 10:40:36 +02:00 (CEST) Date last edited N/A

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