Phenotype #0000093006

Individual ID	00117536
Associated disease	?
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	LAMSHF
Phenotype details	weight >97th, height 90th, OFC 50th; slight motor delays, intellectual disability (IQ 60); 4y6m-first words; attention deficit-hyperactivity disorder, behavior problems in school; slight hypotonia; no seizures; strabismus; dysmorphic features, brachycephaly, frontal bossing, displaced occipital hair whorl, short philtrum, crowded teeth, rounded lower facies; flat feet; normal back/spine; genu valgum, outturned ankles; no heart defects; no genital abnormalitiesonia; brachycephaly; frontal bossing; displaced occipital hair whorl; short philtrum; crowded teeth; rounded lower facies; flat feet; genu valgum; outturned ankles; mother with intellectual disability;
Inheritance	Unknown
Age/Examination	07y09m (7 years, 9 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Blake Ballif
Database submission license	No license selected
Created by	Blake Ballif
Date created	2011-12-23 20:19:44 +01:00 (CET)
Date last edited	2024-01-31 17:10:34 +01:00 (CET)