Phenotype #0000337093

Individual ID	00447901
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	LAMSHF
Phenotype details	weight 3rd-5th, height 10th-25th, OFC <3rd (38.1 cm); moderate-severe developmental delay; no hypotonia; seizures; intermittent adducted thumbs; constant tongue thrust; blue sclerae; dysmorphic features, sparse hair, low-set ears, familial darwinian tubercles, small ear lobules, soft cartilage, minimal synophrys, upslanting palpebral fissures, high/wide nasal bridge, square/tubular nose, long columella, broad nasal tip, short philtrum, broad and short uvula; arachnodactyly; hyperconvex nails; deep plantar creases; minimal clinodactyly of second and third toes; normal back/spine; hip laxity; no heart defects; anteriorly placed anus; deep sacral cleft with sacral dimple; hypoplastic and inverted nipples
Inheritance	Unknown
Age/Examination	4m15d
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-01-31 22:02:27 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD