Phenotype #0000357569

Individual ID	00472774
Associated disease	RSTS
Diagnosis/Initial	Rubinstein-Taybi syndrome
Diagnosis/Definite	MRD26
Phenotype details	see paper; ..., short stature; no microcephaly; feeding difficulties (infancy); intellectual disability; developmental delay; no speech; motor delay; autistic features; hypotonia; <18y-epilepsy; no spasticity; no attention-deficit hyperactivity disorder; behavioral issues; MRI brain structural brain anomaly; corpus callosum malformation; cerebellar malformation; small posterior fossa, borderline small cerebellum/posterior fossa; no down slanting palpebral fissures; no short palpebral fissures; no telecanthus; strabismus; no eye closure with smile; synophrys; horizontal eyebrows (mild) or low-set; thick eyebrows; no eyebrows sparse (total or partly); prominent (high) nasal bridge; wide (broad) nasal bridge; convex nasal ridge; anteverted nares; no low hanging columella; short philtrum; narrow (small) mouth; no thick vermillion upper or lower lip (thick lips); normal jaw; ear malformation or low-set ears; wide nasal base; broad terminal phalanges (thumbs/halluces); no kyphosis/scoliosis; tight heel cords; angulated hallux; 5th finger clinodactyly, fetal pads, short 4th metatarsals overlapping 4th/5th toes both feet
Inheritance	Isolated (sporadic)
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-02-27 16:16:22 +01:00 (CET)
Date last edited	2026-02-27 17:16:45 +01:00 (CET)