Phenotype #0000326481

Individual ID	00436301
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	cohesinopathy
Phenotype details	no synophrys; depressed nasal bridge, high palate; developmental delay, intellectual disability; gastroesophageal reflux; failure to thrive; weight <2nd, length 3rd, OFC <2nd; short stature; microcephaly; motor delay; speech delay; no autism spectrum disorder; no seizures; hypertonia; no hypotonia; no brachycephaly; no ptosis; no hypertelorism; no anteverted nares; depressed/broad nasal bridge; no bulbous nasal tip; no low-set ears; no microtia; no dysmorphic ears; no long/smooth philtrum; high arched palate; no thin upper lip; no downturned mouth; no cleft lip/palate; no widely spaced teeth; no late-erupting teeth; no micrognathia; no short neck; no hypoplastic nails; no hirsutism; no hairline; no cutis marmorata; no strabismus; no hearing loss; no low-pitched, growling cry in infancy; no congenital heart defect; no congenital diaphragmatic hernia; no pulmonary hypoplasia; no recurrent infections; no small nipples; gastroesophageal reflux; no structural anomalies renal tract; no scoliosis; no rib fusion; no vertebral anomalies; no limited elbow extension; no radioulnar abnormalities; no micromelia; no phocomelia; no brachydactyly; no fifth finger clinodactyly; no single transverse palmar crease; no 2-3 toe syndactyly; MRI brain cerebellar tonsillar ectopy, o/w normal; ECG patent foramen ovale vs atrial septal defect;, o/w normal
Inheritance	Unknown
Age/Examination	2y6m (2 years, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-08-31 23:02:18 +02:00 (CEST)
Date last edited	N/A