Phenotype #0000350047

Individual ID 00462569
Associated disease SCKL
Diagnosis/Initial SCKL
Diagnosis/Definite SCKL1
Phenotype details see paper; ..., birth weight 1.15kg, height 36cm, OFC 27cm; 20m weight -8 SD, height -8 SD, OFC -10 SD; micrognathia, prominent nose, hypoplastic alae nasi, low set columella, deep set short palpebral fissures; 20m-4 teeth; ears mall, round, low set, poorly formed antihelix tragus/antitragus, sbsent lobes; small hands, tapering fingers; symmetric dwarfism; small patellae; no joint hypermobility, no kyphoscoliosis; normal skin pigmentation; small feet with metatarsus adductus
Inheritance Familial, autosomal recessive
Age/Examination 00y20m (20 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-02-13 17:39:46 +01:00 (CET)
Date last edited N/A

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