Phenotype #0000187350

Individual ID	00248354
Associated disease	NDD
Diagnosis/Initial	severe DD/ID
Diagnosis/Definite	-
Phenotype details	severe developmental delay/intellectual disability; Generalized, tonic-clonic seizures (onset at 5 months), initially controlled with phenobarbital, developed drug-resistance, partially controlled with carbamazepine, clobazam, nitrazepam and phenobarbital; Axial hypotonia, peripheric hypertonia; normal vision, normal hearing; MRI brain pachygyria of frontal lobes, abnormal opercularization of insulae with thicker insular cortices, wide Sylvian fissures, cerebral atrophy, brainstem hypoplasia, increased volume of the trigones and occipital horns of the lateral ventricles; microcephaly; Large nose with bulbous nasal tip and low hanging columella; short philtrum; Wide mouth with square upper lip; teeth and gum abnormalities; Micrognathia; synophrys, hypertrichosis; mesomelic dysplasia 4 limbs; arms and legs Madelung deformity, slender limb bones, fibular hypoplasia/agenesis; Hypoplastic talipes, fusion of tarsal bones; Severe scoliosis, C2-C3 vertebral fusion, L5-S1 vertebral cleft; normal hips and pelvis; osteopenia, osteoporosis; no horseshoe kidney; gastroesophageal reflux disease, constipation; failure to thrive; Neonatal respiratory distress, recurrent pneumonia, frequent hiccups improved with carbamazepine, respiratory arrest leading to death at 21 years
Inheritance	Isolated (sporadic)
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-07-22 16:48:52 +02:00 (CEST)
Date last edited	2021-05-09 15:02:29 +02:00 (CEST)

Global Variome shared LOVD

LRRTM1 (leucine rich repeat transmembrane neuronal 1)

Phenotype #0000187350