Phenotype #0000187354

Individual ID 00248358
Associated disease NDD
Diagnosis/Initial severe DD/ID
Diagnosis/Definite -
Phenotype details severe developmental delay/intellectual disability; Generalized, tonic-clonic seizures; Hypotonia; normal vision, normal hearing; MRI brain cerebral atrophy; microcephaly; Large nose with bulbous nasal tip and low hanging columella; short philtrum; Prominent upper lip; no teeth and gum abnormalities; Mild micrognathia; synophrys, hypertrichosis; Long palpebral fissures; mesomelic dysplasia 4 limbs; Limited supination, radial head dislocation/subluxation, hypoplastic fibula; Limited supination, pes planus, broad toe tips; Pectus excavatum; Hip dislocation; osteopenia, osteoporosis; no horseshoe kidney; Constipation; failure to thrive; no respiratory problems
Inheritance Isolated (sporadic)
Age/Examination 08y (8 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 2019-07-22 16:48:52 +02:00 (CEST)
Date last edited 2021-05-09 15:40:31 +02:00 (CEST)

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