Global Variome shared LOVD

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Phenotype #0000092544 Individual ID 00117297 Associated disease KDVS Phenotype details bilateral cleft lip and palate; micrognathia; ventricular septal defect (VSD) spontaneously resolved; cryptorchidism; sacral dimple; neonatal hypotonia, inspiratory stridor and feeding difficulties; developmental delay, with independent walking at 26 months, and first words at 18 months; expressive language disorder; moderate cognitive impairment (IQ 35); friendly personality; normal brain MRI; frequent acute otitis media; mild hypermetropia; strabismus divergens; long face; micrognathia; hypertelorism; strabismus; everted ears; short upslanting palpebral fissures; high nasal bridge; broad pear-shaped nose; long philtrum; open mouth appearance; unilateral simian crease; scoliosis; pes planus; mild hypotonia; gait instability Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Giuseppe Marangi Database submission license No license selected Created by Giuseppe Marangi Date created 2013-01-14 20:03:00 +01:00 (CET) Date last edited N/A

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