Phenotype #0000359893

Individual ID	00475179
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	RATARS
Phenotype details	see paper; ..., high anterior hairline; normal frontal hairline; bitemporal narrowing; frontal bossing; sparse eyebrows; arched eyebrows; no synophrys; wide set eyes/'telecanthus; epicanthus; normal palpebral fissures; upslanting palpebral fissures; low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; prominent nasal tip; flattened nasal bridge; bulbous nose; anteverted nares; no choanal atresia; thick vermilion; long philtrum; no thin upper lip; no gingival overgrowth; normal teeth; micrognathia; no cleft lip/ cleft palate; high/narrow palate; pointed chin; global developmental delay; intellectual disability; delayed gross motor skills; language delay; abnormal behavior; aggressive behavior/self-injurious behavior; autism spectrum disorder; no stereotypic behavior; no hypotonia; no oral motor hypotonia; no seizures; normal pyramidal signs; no gait imbalance; no hemiparesis; no cardiac features; no congenital heart defects; no gastro-intestinal features; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no edema; no precocious puberty; no nail hypoplasia
Inheritance	Isolated (sporadic)
Age/Examination	5y7m (5 years, 7 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-04-03 16:14:32 +02:00 (CEST)
Date last edited	N/A