Phenotype #0000041579

Individual ID 00054912
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); oral-pharyngeal dysphagia (HP:0200136); prominent supraorbital ridges (HP:0000336); downslanted palpebral fissures (HP:0000494); deeply-set eye (HP:0000490); sagging cheeks; long face (HP:0000276); high arched palate (high palate HP:0000218); thin upper lip (thin upper lip vermilion HP:0000219); pointed chin (HP:0000307); bulbous nasal tip (bulbous nose HP:0000414); strabismus (HP:0000486); myopia (HP:0000545); mild ventriculomegaly (HP:0002119); cerebellar atrophy; hypoplasia of the cerebellar vermis (HP:0001320); low deep tendon reflexes (reduced tendon reflexes) HP:0001315); gait abnormalities (gait disturbance HP:0001288); balance problem (gait imbalance HP:0002141); diplegia (spastic diplegia HP:0001264); autistic behaviors (HP:0000729); attention deficit hyperactivity disorder (HP:0007018); anxiety (HP:0000739); intellectual disability (HP:0001249); N/A; brain: periventricular white matter gliosis; not present -HP:0000463, -HP:0000252, -HP:0000308, -HP:0000316, -HP:0000343, -HP:0000369, -HP:0000411, -HP:0000470, -HP:0000639, -HP:0000664, -HP:0000767, -HP:0001007, -HP:0001057, -HP:0001250, -HP:0001257, -HP:0001290, -HP:0001337, -HP:0001382, -HP:0001511, -HP:0002650, -HP:0002808, -HP:0004696, -HP:0007375, -HP:0007483, -HP:0008070, -HP:0009748, -HP:0011220, -HP:0011927; full term, weight 2850 (<10th)
Age/Examination 16y (16 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2015-12-07 12:50:28 +01:00 (CET)
Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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