Phenotype #0000326479

Individual ID	00436299
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	cohesinopathy
Phenotype details	no synophrys; depressed broad nasal bridge,anteverted nares, micrognathia,high arched palate, absent teeth; developmental delay, intellectual disability; scoliosis; major eye malformation, seizures; no failure to thrive; weight 3rd, length 3rd, OFC 5-10th; short stature; microcephaly; motor delay; speech delay; no autism spectrum disorder; behavioral problems , irritability; izures, right sided with secondary generalization; no hypertonia; hypotonia; no brachycephaly; no long curly eyelashes; no ptosis; no hypertelorism; anteverted nares; depressed/broad nasal bridge; bulbous nasal tip; low-set ears; no microtia; dysmorphic ears; no long/smooth philtrum; narrow high arched palate; no thin upper lip; no downturned mouth, small mouth; no cleft lip/palate; late-erupting teeth, single central incisor; micrognathia; no short neck; hypoplastic nails, with pits; no hirsutism; ?; no myopia; no hearing loss; no congenital heart defect, no murmur; no congenital diaphragmatic hernia; no pulmonary hypoplasia; no recurrent infections; no small nipples, but accessory nipple left side; no gastroesophageal reflux; 10m-normal renal ultrasound; scoliosis, dextroscoliosis; rib fusion; 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 callosal agenesis, colpocephaly of lateral ventricle atrium and occipital horns, no migrational anomaly, no infarct or extra-axial collection
Inheritance	Isolated (sporadic)
Age/Examination	1y11m (1 year, 11 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