Phenotype #0000359891

Individual ID	00475177
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; no sparse eyebrows; no arched eyebrows; no synophrys; no wide set eyes/telecanthus; mild epicanthus; slightly short 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; no bulbous nose; slight anteverted nares; no choanal atresia; thick vermilion upper lip; normal philtrum; no thin upper lip; no gingival overgrowth; overcrowded dentition; mild micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; downslanting palpebral fissures, absent ear lobe, slightly short philtrum; global developmental delay; intellectual disability; delayed gross motor skills; difficulties coordination; language delay; very anxious, tantrums, can be over-friendly to strangers, sensory issues (very particular about touch, food), loves to hang on monkey bars; generally happy/kind (can flip into bad behaviour with hitting); autism spectrum disorder; stereotypic behavior; hypotonia, hypermobility; no oral motor hypotonia, poor at chewing food; no seizures; normal pyramidal signs; gait poor coordination, out-turned feet; slightly weaker right side (physiotherapist); 18m-MRI brain normal; constipation; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; very mild brachydactyly; no pectus excavatum; no pes cavus; mild camptodactyly (5th fingers); slightly short toes; no hip dysplasia; no genu valgum; normal ribs; ?; hypoplastic 5th fingers and toes, slight tapering of fingers, pes planus; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; small persistent capillary haemangiomas (upper lip, above right eye, nape of neck); dry skin; no edema; precocious puberty, 7y-onset breast development, 9y-early pubic hair; mild nail hypoplasia (more obvious left thumb); hyperacusia, mild central obesity, frequent UTIs, mild bilat hydronephrosis; difficult getting to sleep
Inheritance	Isolated (sporadic)
Age/Examination	9y4m (9 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