Phenotype #0000359894

Individual ID	00475180
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	RATARS
Phenotype details	see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; no wide set eyes/telecanthus; no epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; no prominent nasal tip; high nasal bridge; bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; pointed chin; periorbital fullness, long face; global developmental delay; intellectual disability; language delay; abnormal behavior; aggressive behavior/self-injurious behavior; autism spectrum disorder; stereotypic behavior; no hypotonia; no oral motor hypotonia; seizures; normal pyramidal signs; no gait imbalance; no hemiparesis; MRI brain normal; no cardiac features; no congenital heart defects; no gastro-intestinal features; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no 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	Familial, autosomal dominant
Age/Examination	17y (17 years)
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