Phenotype #0000332714

Individual ID	00443372
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth at term, weight 2.438 kg (the 2-5th), ; weight 16.6 kg (50th), height 98.2 cm (5th), OFC 46.5 cm (<2nd); global developmental delay/intellectual disability; few words; 1y-sit; 2y-walk; impaired smooth eye movements; no impaired saccades; no limited upgaze; no spasticity; no velocity dependent spasticity present; no spasticity in upper limbs; no spasticity in lower limbs; cerebellar ataxia (mild); no upper limb ataxia; abnormal gait - unsteady, clumsy, falls frequently; no tremor; no head tremor; no head tremor; no Parkinsonism; no upper limb dystonia on hand pronation-supination test; stooping of the body; no lateral flexion body; no scoliosis; no leg/foot dystonia; no postural instability; urinary incontinence (developmentally appropriate); no orthostatic hypotension; no seizures; no autism; no aggression; no self-injury; no tantrum temper; no sleep disturbance; no coarse face; no deep set eyes; lateral upslanting palpebral fissures; no broad nose, no depressed nasal bridge; thin upper lip; everted lower lip; prognathia; Cleft palate, telecanthus;
Inheritance	Familial, autosomal recessive
Age/Examination	5y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-25 19:15:23 +01:00 (CET)
Date last edited	N/A