Phenotype #0000051859

Individual ID 00072153
Associated disease CSCSC1
Phenotype details decreased head circumference present at birth (HP:0011451), reduced head circumference – current (HP:0000252), cleft palate (HP:0000175), limbs; spontaneous improvement (HP:?), microphthalmia (HP:0000568) with small upslanting palpebral fissures (HP:0000582), epicanthal folds (HP:0000286), broad nasal bridge (HP:0000431), flat midface (HP:0040199), small mouth (HP:0000160), small chin (HP:0000331), clinodactyly of fifth fingers (HP:0004209), intellectual disability, mild (HP:0001256) to intellectual disability, moderate (HP:0002342)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 06y (6 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Jamie Zeegers
Database submission license No license selected
Created by Jamie Zeegers
Date created 2016-05-30 11:15:53 +02:00 (CEST)
Date last edited 2017-03-24 20:33:36 +01:00 (CET)

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