Phenotype #0000143248

Individual ID 00180981
Associated disease SLS
Phenotype details HP:0007503 (Gen. Ichthyosis, severe, "collodion baby");
HP:0001258 (Spastic paraplegia);
HP:0001249 (intellectual disability);
HP:0007266 (Cerebral dysmyelination, periventricular, frontal, occipital),
HP:0001250 (seizures);
HP:0001622 (premature birth, 36 weeks);
HP:0002751 (kyphoscoliosis);
HP:0000369 (low-set ears)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 07y (7 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2018-09-19 18:34:28 +02:00 (CEST)
Date last edited N/A

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