Phenotype #0000294042

Individual ID	00377108
Associated disease	BDVS
Diagnosis/Initial	Blakemore-Durmaz-Vasileiou syndrome
Diagnosis/Definite	BDVS
Phenotype details	Infantile hypotonia HP:0008947, Obesity HP:0001513, Hyperphagia HP:0002591, Intellectual disability HP:0001249, Motor delay HP:0001270, Delayed speech and language development HP:0000750, Behavioral abnormality HP:0000708, Brain imaging abnormality HP:0410263, Hypothyroidism HP:0000821, Insulin resistance HP:0000855, Enuresis HP:0000805, Macrocephaly HP:0000256, Coarse facial features HP:0000280, Oval face HP:0000300, Low anterior hairline HP:0000294, Periorbital fullness HP:0000629, narrow palpebral fissures HP:0045025, Low hanging columella HP:0009765, short philtrum HP:0000322, Cupid bow upper lip HP:0002263, Everted lower lip vermilion HP:0000232, Micrognathia HP:0000347, Tapering fingers HP:0001182, Pes planus HP:0001763 and 'vetricular septal defect, 'intermittent exotropia, hepatic steatosis, esophageal varices, acanthosis nigricans, obstructive sleep apnea, hypertrichosis, pes valgus
Inheritance	Familial, autosomal recessive
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Moritz Hebebrand
Database submission license
Created by	Moritz Hebebrand
Date created	2021-07-04 19:43:25 +02:00 (CEST)
Date last edited	2022-01-27 15:41:18 +01:00 (CET)

Global Variome shared LOVD