Global Variome shared LOVD

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Phenotype #0000330243 Individual ID 00047975 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite CSS1 Inheritance Isolated (sporadic) Phenotype details see paper; ..., moderate developmental delay; delayed speech; 20m-walk; no muscular hypotonia; MRI brain nromal; no seizures; no hearing loss; no heart malformation; no cleft palate; brachycephaly; low-set and/or posteriorly rotated ears; abnormally shaped ears; no downslanting palpebral fissures; no strabism; no bulbous nasal tip; thin upper lip; no retro/micrognathia; single palmar creases, clinodactyly V, deep set thumbs, Hallux valgus; unilateral myopia, blocked nasolacrimal duct, dermoid cyst, atlanto/occipital abnormalities, discreet rhizomelic shortening of arms and legs, scoliosis, cryptorchism Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2023-11-01 17:17:04 +01:00 (CET) Date last edited N/A

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