Phenotype #0000060815

Individual ID 00081237
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis, severe); HP:0002510 (Spastic tetraplegia, severe); HP:0001263 (Global developmental delay); HP:0001249 (intellectual disability, severe); HP:0001250 (seizures); HP:0030507 (retinal crystals, "white dots"); HP:0000613 (photophobia, severe); HP:0000316 (hypertelorism); HP:0000268 (Dolichocephaly); HP:0000527 (Long eyelashes); HP:0010743 (short metatarsal, D3,D4 and D5); HP:0002267 (Exaggerated startle response); HP:0007266 (Cerebral dysmyelination)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination >01y06m (later than 1 year, 6 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2016-09-26 18:31:34 +02:00 (CEST)
Date last edited 2017-10-16 16:47:39 +02:00 (CEST)

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