Phenotype #0000000798

Individual ID	00001630
Associated disease	FLHS
Inheritance	Isolated (sporadic)
Diagnosis/Initial	-
Age/Onset	-
Diagnosis/Definite	-
Age/Examination	-
Phenotype details	glandular hypospadias at birth; Walking at 24m; Speech develomental delay; Height at 8y9m of 119cm/<3rd centile; Weight at 8y9m of 26.8kg/25th centile; OFC at 8y9m of 53cm/75th centile; Metopic ridge; Pits of ear lobules; Typical nose (broad base, prominent nasal bridge, hypoplastic alae nasi, bulbous tip, low-hanging columella); Thin upper lip; Bilateral fifth finger clinodactyly; generalized hypertrichosis; atopic dermatitis; Attend special school; temperament and behavior diffiiculties with (auto)arressive outbursts; Brain MRI, sonography of the abdomen, EEG, ophthalmologic examination and hearing tests are normal; Bone age of 5y3m at chronological age of 8y2m; SNP array(Affymetrix 6.0) normal; delayed bone age
Age/Diagnosis	-
Birth_Details	42w1d; weight 3540g (30th); length 54cm (61th); OFC 37.5cm (86th)
Phenotype/Onset	-
Height-Weight-OFC	-
Face/Philtrum	short
Protein	-
Owner name	Dennis E. Bulman
Database submission license	No license selected
Created by	Dennis E. Bulman
Date created	2013-07-23 21:53:15 +02:00 (CEST)
Date last edited	2025-02-03 10:18:24 +01:00 (CET)