Phenotype #0000359878

Individual ID	00475164
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	RATARS
Phenotype details	see paper; ..., no late-closing anterior fontanel; high anterior hairline; normal frontal hairline; bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; wide set eyes/'telecanthus; epicanthus; small palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; prominent nasal tip; no flattened nasal bridge; bulbous nose; anteverted nares; no choanal atresia; thick vermilion; long philtrum; no thin upper lip; gingival overgrowth; teeth abnormalities; micrognathia; no cleft lip/ cleft palate; high/narrow palate; pointed chin; global developmental delay; moderate intellectual disability; delayed gross motor skills; delayed fine motor skills; language delay; abnormal behavior; severe aggressive behavior/self-injurious behavior; no autism spectrum disorder; no stereotypic behavior; hypotonia; oral motor hypotonia; no seizures; abnormal pyramidal signs; gait imbalance; hemiparesis; cerebellar atrophy; cardiac features; no congenital heart defects; supraventricular tachycardia; no gastro-intestinal features; no exotropia, no strabismus; mild myopia; no coloboma, no microphthalmia; normal iris; brachydactyly; no pectus excavatum; no pes cavus; bilateral 3th-5th finger camptodactyly; genu valgum; normal ribs; scoliosis/kyphosis; feeding/swallowing problems; neonatal asphyxia; normal skin; edema feet; precocious puberty; no nail hypoplasia
Inheritance	Isolated (sporadic)
Age/Examination	24y6m (24 years, 6 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