Phenotype #0000325673

Individual ID 00435486
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite NEDCFSA
Phenotype details see paper; ..., no pregnancy complications, vacuum extraction, Apgar 9,10,10; birth 39w+3d; mild language/speech delay, 18m-first words, 24m-started to understand speech; motor delay, 18m-first steps; no intellectual disability, learning difficulties; autism spectrum disorder; bossy, agressive (verbally); no psychosis/schizophrenia; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; symmetrically low reflexes, "wooden" motoric skills; no syndactyly; no vertebral abnormalities; distal brachydactyly (also in father),clinodactyly III,IV,V bilateral, short and broad feet,; no pectus excavatum; flat nasal bridge, deep set elanguage/speech delay, epicanthal folds, broad chin, anteverted nares, thin lips, coarse facial features, square face, prominent earlobes, Accessory nipple on left; no lip/cleft palate; mild hypermetropia; no strabismus; normal hearing; recurrent ear infections, ear tubes; no congenital heart disease; slow weight gain in first month due to breastfeeding problems, resolved after switching to bottle feeding; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; nasal speech
Inheritance Familial
Age/Examination 16y (16 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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