Phenotype #0000300607

Individual ID	00408490
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	MRD66
Phenotype details	see paper; ..., no prenatal issues, birth 39w, SVD, weight 3100 g (18%), height 47 cm (6%), OFC 33 cm (5%); 12m-sit; >26m-walk; 26m-single words; global developmental delay; no hypotelorism, no hypertelorism; no strabismus; no ptosis; no prominent philtrum; no thin upper lip; no tented mouth; everted lower lip; no micro-/retro-/pro-gnathia; no open mouth; 1st fingers shortening, hypertrichosis, premature thelarche, low hairline, bilateral epicanthus, long eyelashes, bulbous nose, hat-shaped mouth, ogival palate, short neck, low implanted thumbs, deep palmar crease, clinodactyly of 5th fingers, overlapping of the toes, hirsutism on the back, limbs, and toes; intellectual disability; hypotonia; hepatomegaly; no liver dysfunction; intractable itching (pruritus); feeding difficulty; MRI brain normal; ultrasound liver dysmorphic hepatomegaly with increased elasticity measurements (mean velocity 1.3m/s), hepatic hilar lymph nodes swelling, with slight effusion recto-uterine pouch
Inheritance	Isolated (sporadic)
Age/Examination	03y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-04-21 21:44:36 +02:00 (CEST)
Date last edited	2025-08-29 19:47:46 +02:00 (CEST)