Phenotype #0000357299

Individual ID	00472489
Associated disease	NDD
Diagnosis/Initial	congenital lactic acidosis
Diagnosis/Definite	CHOCNS
Phenotype details	see paper; ..., no prenatal anomalies; no neonatal aproblems; tall and thin body habitus; proportionate; global developmental delay; intellectual disability(FSIQ=83); autism; aggressive/violent behavior, self-injurious, attention deficit hyperactivity disorder, anxiety, impulsivity; delayed speech; generalized hypotonia; no seizures; MRI brain normal; congenital ptosis; no gastrointestinal anomalies; no genitourinary anomalies; no cardiovascular anomalies; chronic nasal congestion, adenotonsillar hypertrophy; obstructive sleep apnea, sleep disturbance, poor balance, poor coordination, joint hypermobility; dolichocephaly, low anterior hairline, downslanted palpebral fissures, ptosis, hypertelorism, telecanthus, thick arched eyebrows, thick helical cartilage, uplifted left earlobe, high nasal bridge, anteverted nares, micrognathia, thin vermilion, large maxillary central incisors Extremities: pes planus, tapered fingers, single palmar creases chest pectus excavatum
Inheritance	Unknown
Age/Examination	12y3m (12 years, 3 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-02-18 11:04:57 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD