Phenotype #0000302572

Individual ID	00410468
Associated disease	CSS2;MRD14
Phenotype details	growth delay, short stature, generalized hypotonia, abnormality of the nervous system, global developmental delay, delayed speech and language development, seizures, abnormal corpus callosum morphology, abnormal posterior cranial fossa morphology, Dandy-Walker malformation, cerebellum hypoplasia, posterior pituitary dysgenesis, atrial septal defect, pulmonary venous hypertension, abnormal carotid artery morphology, abnormality of the digestive system, feeding difficulties, poor suck, abnormality of the gastrointestinal tract, gastroesophageal reflux, chronic constipation, intestinal obstruction, abnormality of the vertebral column, joint laxity, coarse facial features, low anterior hairline, ptosis, strabismus, depressed nasal bridge, wide nose, anteverted nares, thick nasal alae, broad philtrum, thick vermillon border, delayed eruption of teeth, high palate, prominent eyelashes, thick eyebrow, hypertrichosis, small nail, sparse scalp hair, hepatoblastoma
Diagnosis/Initial	Coffin-Siris syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	CSS2
Age/Examination	01y (1 year)
Age/Diagnosis	-
Age/Onset	00y
Phenotype/Onset	-
Protein	-
Owner name	Eugenio Zapata-Aldana
Database submission license	No license selected
Created by	Eugenio Zapata-Aldana
Date created	2022-05-27 00:31:05 +02:00 (CEST)
Date last edited	2022-05-30 12:53:00 +02:00 (CEST)