Phenotype #0000359885

Individual ID	00475171
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	RATARS
Phenotype details	see paper; ..., late-closing anterior fontanel; no high anterior hairline; low frontal hairline; bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; synophrys; no wide set eyes/telecanthus; no epicanthus; normal palpebral fissures; upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; prominent nasal tip; no flattened nasal bridge; bulbous nose; anteverted nares; no choanal atresia; normal vermilion; long philtrum; no thin upper lip; gingival overgrowth; normal teeth; micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; puffy skin under eyes; global developmental delay; delayed gross motor skills; delayed fine motor skills; language delay; abnormal behavior; no aggressive behavior/self-injurious behavior; autism spectrum disorder; stereotypic behavior; hypotonia; no oral motor hypotonia; no seizures; normal pyramidal signs; cerebellar ataxia; no hemiparesis; MRI brain normal; no cardiac features; no congenital heart defects; no gastro-intestinal features; no exotropia, no strabismus; 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; pes planus, bilateral 5th finger clinodactyly; no feeding problkems, no swallowing problems; no hearing loss; hemangioma forehead; no nail hypoplasia
Inheritance	Isolated (sporadic)
Age/Examination	2y2m (2 years, 2 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

Global Variome shared LOVD

CLRN1 (clarin 1)

Phenotype #0000359885