Phenotype #0000058854

Individual ID 00079126
Associated disease SLS
Phenotype details HP:0007503 (generalized Ichthyosis, entire body); HP:0012758 (neurodevelopmental delay, movement, speech); HP:0002510 (spastic quadriplegia, partial contractures in all extremeties);
HP:0011400 (abnormal CNS myelination); HP:0001250 (seizures); HP:0001336 (nocturnal myoclonus); HP:0000297 (facial hypotonia); HP:0000670 (dental caries); HP:0000028 (Cryptorchidism, maldescensus of right testicle); HP:0012203 (onychomycosis, fingernails); HP:0007957 (corneal opacity); HP:0000613 (photophobia, severe)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2016-08-07 11:10:52 +02:00 (CEST)
Date last edited 2017-05-28 16:58:20 +02:00 (CEST)

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