Phenotype #0000049865

Individual ID 00003114
Associated disease CFND;CFNS
Phenotype details coronal craniosynostosis R (HP:0004440), hypertelorism (HP:0000316), grooved nasal tip (HP:0000456), no down slanting palpebral fissures (-HP:0000494), unilateral cleft lip (HP:0100333), cleft palate (HP:0000175), no agenesis corpus callosum (-HP:0001274), mild learning disability (HP:0001328), no Sprengel deformity (-HP:0000912), grooved nails (HP:0001807), no brachydactyly (-HP:0001156), syndactyly 2nd-3rd toes L (HP:0004691), no clinodactyly (-HP:0030084), no low set ears (-HP:0000369), wiry hair, ptosis (HP:0000508), no undescended testes (-HP:0000028), small ASD-resolved spontaneously, sloping shoulders, umbilical hernia (HP:0001537)
Diagnosis/Initial -
Inheritance Familial, X-linked
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license No license selected
Created by Johan den Dunnen
Date created 2016-04-08 18:46:43 +02:00 (CEST)
Date last edited 2016-04-08 19:36:39 +02:00 (CEST)

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