Phenotype #0000297016

Individual ID 00404424
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details birth 40w length 49 cm (-1.02 SD)birth 40w length 49 cm (-1.02 SD), weight 2.96 kg (-1.25 SD), OFC 33 cm (-1.73 SD); height 135.6 cm (-2.82 SD), weight 26.4 kg (-3.44 SD), OFC 49.5 cm (-3.74 SD); Cortical vision impairment, severe autism, normal power, poor coordination, no seizures; MRI toddler- brain and spine normal; Severe global dev delay. Walked 5 yrs. 13yrs; non-verbal, affectionate, not toilet trained. Occasionally feeds self.; Relative hypertelorism, long palpebral fissures, prominent epicanthal folds, eyebrows sparce laterally, low nasal bridge, broad nasal tip with ridge, wide philtrum, tented upper lip, small ears, overfolded helices, dental crowding, wide gap central incisors.; fed until 6 months, suddenly stopped and required NG tube feeding until 18 months old.; hydrocoele, minor chordee; bilateral talipes; flat tympanograms, hard wax obstructing canals; cortical vision impairment; persistent macrocytosis of unknown cause; dental crowding, wide gap central incisors.; mild dilatation of aortic root since 10yrs, mild mitral valve prolapse, very little subcutaneous fat. poor muscle development generally.
Inheritance Isolated (sporadic)
Age/Examination 13y6m (13 years, 6 months)
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 2022-03-02 10:20:20 +01:00 (CET)
Date last edited N/A

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