Phenotype #0000187353

Individual ID 00248357
Associated disease NDD
Diagnosis/Initial severe DD/ID
Diagnosis/Definite -
Phenotype details severe developmental delay/intellectual disability; Complex partial with secondary generalization; Axial hypotonia, peripheric hypertonia; Central vision loss due to occipital impairment, central progressive hearing loss; MRI brain prominence of CSF spaces; brachycephaly, no microcephaly; Bulbous nasal tip, low hanging columella with low insertion; short smooth philtrum; Wide mouth with downturned corners, thick lower lip vermillion; teeth and gum abnormalities; Micrognathia; synophrys, hypertrichosis; Long palpebral fissures, low-set and posteriorly rotated large ears with a simple helix, facial asymmetry; mesomelic dysplasia 4 limbs; Short fibula, discoid meniscus, limited knee extension; Soft tissue syndactyly of fingers 3rd-4th, small feet, pes planus, 2nd toe overlapping hallux bilaterally; Scoliosis, incomplete coronal cleft of T9 and T12 vertebrae, low lying spinal cord, termination of conus medullaris at upper border of L3; Bilateral coxa valga; osteopenia; horseshoe kidney; gastroesophageal reflux disease, gastrojejunostomy tube dependent, chronic constipation, hiatal hernia, pancreatitis; failure to thrive; no respiratory problems
Inheritance Isolated (sporadic)
Age/Examination 09y (9 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 15:37:51 +02:00 (CEST)

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