Phenotype #0000359879

Individual ID 00475165
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite RATARS
Phenotype details see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; medial sparse eyebrows; no arched eyebrows; no wide set eyes/telecanthus; epicanthus; normal palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; slightly over-folded superior helices; prominent nasal tip; flattened nasal bridge; no bulbous nose; no choanal atresia; normal philtrum; no thin upper lip; teeth abnormalities; mild micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; broad, upturned nasal tip; global developmental delay; delayed gross motor skills; delayed fine motor skills; language delay; tantrums, hitting; biting; no autism spectrum disorder; hand flapping, head shaking, hyperventillation; hypotonia; oral motor hypotonia; no seizures; no CNS anomalies; gastroesophageal reflux; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; small 5th toenails, bilateral clinodactyly; no hip dysplasia; no scoliosis, no kyphosis; feeding/swallowing problems; no hearing loss; cerebral hemorrhage, venous insufficiency, acrocyanosis; normal skin; nail hypoplasia
Inheritance Isolated (sporadic)
Age/Examination 21m
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2026-04-03 16:14:32 +02:00 (CEST)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.