Phenotype #0000325609

Individual ID	00435415
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NCFD
Phenotype details	20w- fetal scan showed prefrontal edema, nasal bone hypoplasia, increased nuchal translucency, suspicious of aortic coarctation and ambiguous genitalia, premature rupture of membranes; 34.6w-birth, weight 1980g (−1.12 SD), length 42cm (−1.75 SD), OFC 30.5cm (0.1 SD); height 80 cm (−1.03 SD); Failure to thrive, weight 8,33 (−2.47 SD); microcephaly OFC 46.5cm (−1.76 SD); no failure-to-thrive; severe developmental delay, no walking, no speech, only sitting position acquired; severe developmental delay/ intellectual disability; no seizures; EEG slow posterior activity and poor representation of the NREM sleep graph-elements; brachyturricephaly; narrow, and slightly downslanted, narrow palpebral fissures, hypoplastic nasal root, bulbous prominent overhanging nasal tip, small mouth with thin lips, arched palate, glossoptosis, retrognathia in Pierre-Robin sequence; sparse hair/eyebrows, toenail hypoplasia/dysplasia; short fingers, broad big toes, marked toenail hypoplasia/dysplasia; mild strabismus; no hearing loss; thin corpus callosum, mild vermian and ventral pons hypoplasia, olfactory bulbs absent.; congenital heart defects, intercoronary partially fused - bicuspid aortic valve, slight ascending aorta's dilation, hypertrabecular left ventricle and a dysmorphic aortic arch with mild acceleration flow; left kidney hypoplasia, right cryptorchidism with ipsilateral hemiscrotum's hypoplasia, penoscrotal transposition, coronal hypospadias; feeding difficulties
Inheritance	Familial, autosomal recessive
Age/Examination	01y07m (1 year, 7 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-07-24 16:08:49 +02:00 (CEST)
Date last edited	2025-12-02 13:47:03 +01:00 (CET)