Phenotype #0000078884

Individual ID 00100659
Associated disease SSMCF
Phenotype details microcephalic primordial dwarfism; birth 40w, weight 2700g (-1.8), OFC 0.4th centile; 7y2m, weight 14.24kg (-4.6), length 105.6cm (-3.3), OFC 42.4 cm (-6.5).

Mild to moderate developmental delay (HP:0001263), Delayed bone age (HP:0002750), 5th finger clinodactyly (HP:0004209) & brachydactyly (HP:0009237) No active movement in 1st Interphalangeal Joints (IPJ), Tremor (HP:0001337), (1.6Mb Xp22.31 dup on arrayCGH), blepharophymosis, broad nasal bridge (HP:0000431), cupped ears (HP:0000378), tall forehead(HP:0000348), short tapering fingers (HP:0001182)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 07y02m (7 years, 2 months)
Age/Diagnosis -
Age/Onset 00y00m00d
Phenotype/Onset -
Protein -
Owner name Lynn Boekhoudt
Database submission license No license selected
Created by Lynn Boekhoudt
Date created 2017-03-09 14:59:38 +01:00 (CET)
Date last edited 2017-03-21 16:04:52 +01:00 (CET)

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