Phenotype #0000325699

Individual ID 00435512
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite NEDCFSA
Phenotype details see paper; ..., maternal alcohol abuse; birth at term; language/speech delay, 18m-first words; motor delay, 21m-first steps; mild intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; small hands/ feet, clinodactyly of the fifth digit, palmar creases were norma, no persistent fingertip pads; no pectus excavatum; prominent nasal bridge, esotropia right eye, palpebral fissures measured 3 cm (90%), did not have eversion of the lower lateral eyelids, ptosis, or other eye findings suggestive of kabuki syndrome, ears were somewhat prominent and measured 6cm, mild prognathism and a somewhat prominent forehead; no lip/cleft palate; unilateral myopia causing right esotropia; strabismus; vision20/400 right eye and 20/30 causing amblyopia and right esotropia, not using right eye; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, lethargy interfered with taking bottle well; gastroesophageal reflux in infancy-resolved; no constipation; no skin hyperlaxity; no genitourinary abnormalities; hypoglycemia and presumed partial adrenal insufficiency
Inheritance Unknown
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-08-03 13:47:25 +02:00 (CEST)
Date last edited N/A

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