Phenotype #0000073661

Individual ID	00095265
Associated disease	BAMS
Phenotype details	complete arhinia ; bilateral microphthalmia. Ectopic iris. Vision loss (can only see light); hypertelorism. Posterior cleft palate. Gingival cleft of lower arch. Cleft lower lip (operated). Cleft mandibula. Underdeveloped superior ear pinnae, auricular pit (R). Absent auditory canal (R). CT: absence of external auditory canals. Absence of nasal cavity, nasal bone and anterior soft tissue. Midface hypoplasia. Obstruction of nasolacrimal passage; hypoplastic labia majora. No menarche or secondary sex development; tall and strong build; severe psychomotor retardation. Walked at 4.5 years, talked with two word sentences at the age of 4 years then lost vocabulary. Has prominent articulation defect. Never had toilet training. Has sleep disorder. Stereotypic movements. Anxious, aggressive and non-cooperative; bilateral olfactory bulb agenesis
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	26y (26 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2017-01-13 12:30:06 +01:00 (CET)
Date last edited	2017-01-13 12:51:16 +01:00 (CET)

Global Variome shared LOVD