Global Variome shared LOVD

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Phenotype #0000325658 Individual ID 00435469 Associated disease skeletal dysplasia Diagnosis/Initial Rhizomelia and bilateral clinodactyly Diagnosis/Definite RLSDF Phenotype details birth weight 2990 g; length 70 cm (0.11th, Z -3.07), OFC 46 cm (54th, Z 0.10); Rhizomelic (proximal) upper limb shortening, lower limbs proportionate; no hypotonia; normal developmental milestones; no kyphosis/hyperlordosis; short fifth digit; short broad toes; thick, arched, eyebrows, a thin upper lip, long philtrum; no sloping shoulders; no platyspondyly; no metaphyseal changes; short humeri; sensorineural hearing loss; no cardiovascular anomalies; hemagioma right breast Inheritance Familial, autosomal recessive Age/Examination 16m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-07-31 14:44:28 +02:00 (CEST) Date last edited N/A

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