Phenotype #0000359880

Individual ID	00475166
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	RATARS
Phenotype details	see paper; ..., no late-closing anterior fontanel; no high anterior hairline; low frontal hairline; bitemporal narrowing; no frontal bossing; lateral sparse eyebrows; no arched eyebrows; synophrys; no wide set eyes/telecanthus; epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; large earlobe; no slightly over-folded superior helices; no prominent nasal tip; no flattened nasal bridge; bulbous nose; no anteverted nares; no choanal atresia; thick vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; diastema; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; short columella, deep philtrum; global developmental delay; intellectual disability; delayed gross motor skills; delayed fine motor skills; language delay; no abnormal behavior; aggressive behavior; autism spectrum disorder; brief involuntary movements hands/arms; hypotonia; oral motor hypotonia; seizures; abnormal pyramidal signs; gait imbalance; no hemiparesis; no cardiac features; no congenital heart defects; exotropia/strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; mild 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	4y8m (4 years, 8 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