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)

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