Phenotype #0000330396

Individual ID	00056426
Associated disease	CSS
Diagnosis/Initial	Coffin-Siris syndrome
Diagnosis/Definite	CSS1
Phenotype details	see paper; ..., birth 39w; intellectual disability; 9m-sit, 34m-walk; no speech, still babblingm-first words; hypotonia; no seizures; no vision problem; no hearing loss; frequent infections, sinopulmonary; feeding problems; no behavioural anomalies; coarse face; no low frontal hairline; no synophrys; no thick eyebrows; long eyelashes; no ptosis; no narrow palpebral fissures; flat nasal bridge; broad nasal tip; no upturned nasal tip; thick, anteverted alae nasi; large mouth; no thin upper vermillion; no thick lower vermillion; no macroglossia; no short philtrum; long philtrum; abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; short metacarpals/metatarsals IV-V; no prominent interphalangeal joints; no prominent distal phalanges; sandal gap; no spinal anomalies; no scoliosis; cryptorchidism; AVSD, secundum ASD; no body hirsutism; increased skin wrinkling hands; fetal finger pads; sparse scalp hair; no nail a/hypoplasia; delayed dentition; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum; umbilical hernia, nephrolithiasis
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	00y15m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-03 12:00:50 +01:00 (CET)
Date last edited	N/A