Phenotype #0000359883

Individual ID	00475169
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	RATARS
Phenotype details	see paper; ..., no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; lateral sparse eyebrows; no arched eyebrows; synophrys; 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; no flattened nasal bridge; no bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; large frontal incisors; no micrognathia; cleft lip/ cleft palate; no high/narrow palate; pointed chin; downslanting palpebral fissures, hypopigmented patches; global developmental delay; mildly delayed gross motor skills; mildly delayed fine motor skills; language delay; no abnormal behavior; no aggressive behavior/self-injurious behavior; no autism spectrum disorder; no stereotypic behavior; no hypotonia; no oral motor hypotonia; no seizures; mild neurological features; no gait imbalance; CNS anomalies; cardiac features; two ventrical septal defects; no gastro-intestinal features; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; 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 hearing loss; hemangiomas; normal skin; no nail hypoplasia
Inheritance	Isolated (sporadic)
Age/Examination	3y7m (3 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