Phenotype #0000359889

Individual ID	00475175
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; frontal bossing; no 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; no large earlobe; slightly over-folded superior helices; no prominent nasal tip; no flattened nasal bridge; slightly bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; long philtrum; thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; pointed chin; global developmental delay; intellectual disability (IQ60); delayed gross motor skills; delayed fine motor skills; language delay; abnormal behavior; aggressive behavior/self-injurious behavior; no autism spectrum disorder; no stereotypic behavior; mild hypotonia; oral motor hypotonia; no seizures; normal pyramidal signs; no gait imbalance; no hemiparesis; no cardiac features; no congenital heart defects; no gastro-intestinal features; exotropia/strabismus; no myopia; no coloboma, no microphthalmia; normal iris; astigmatism, suspected ocular albinism; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; large hallux; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; elbows laxity, fingers laxity; 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; hyperacusia
Inheritance	Isolated (sporadic)
Age/Examination	5y4m (5 years, 4 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