Global Variome shared LOVD

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Phenotype #0000060885 Individual ID 00081313 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis, severe); HP:0007325 (Generalized dystonia, severe); HP:0001257 (Spasticity, severe, with "twisting spasms"); HP:0008936 (Muscular hypotonia of the trunk, severe); HP:0001347 (Hyperreflexia, both lower limbs and right arm); HP:0002312 (Clumsiness); HP:0000369 (low-set ears); HP:0012758 (Neurodevelopmental delay, severe); HP:0001249 (intellectual disability, severe); HP:0001622 (premature birth, 36 weeks); HP:0007305 (CNS demyelination, frontal, parietal, occipital, periventricular) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2016-09-30 17:22:49 +02:00 (CEST) Date last edited N/A

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