Phenotype #0000015307

Individual ID 00016941
Associated disease NLS1
Phenotype details born vaginally, died immediately after birth, very small for gestational age and had severe microcephaly (records of actual growth parameters at birth could not be retrieved), micrognathia, bulging eyes with absent
eyelids, severe ichthyosis of the skin, cleft lip and palate on the right side, a very flat nose, a very short neck, and generalized edema. Also had extremely abnormal limbs with hypoplastic forearms and no discernible digits in the upper or lower limbs.
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 00y00m00d ()
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)
Date created 2014-06-08 15:07:17 +02:00 (CEST)
Date last edited 2016-06-19 12:08:07 +02:00 (CEST)

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