Phenotype #0000325757

Individual ID 00435570
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., no complications pregnancy/delivery; birth 37w; language/speech delay; no motor delay, 14m-first steps; no intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; joint hypermobility; no syndactyly; vertebral abnormalities; pes planus, palmar hyperlinearity; no pectus excavatum; mylagia, fatigability, swallowing difficulties; high forehead, micrognathism; no lip/cleft palate; hypermetropia; no strabismus; photophobia; normal hearing; recurrent ear infections; congenital heart disease (bicuspid aortic valve); no neonatal feeding difficulties; no gastroesophageal reflux; constipation; skin hyperlaxity; no genitourinary abnormalities; large stretch marks
Inheritance Unknown
Age/Examination 30y (30 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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