Phenotype #0000348026

Individual ID 00460297
Associated disease SIHIWES
Phenotype details height 8.5y 130.5cm (53%), weight 8.5y 34.2kg (87%), OFC 8.5y 54.5cm (94%); mild motor delay; speech delay, 4y-first word; borderline intellectual disability (IQ 83); autism, attention-deficit/hyperactivity disorder, mood disturbance, dysgraphia; hypotonia; MRI brain normal; no hearing loss; corrective lenses; ECG normal; micropenis; lumbar lordosis, hyperlaxity, borderline lumbosacral spondylolisthesis, Flatfoot; widely spread upper teeth, crowded lower teeth; no gastrointestinal anomalies
Diagnosis/Initial Sifrim-Hitz-Weiss syndrome
Inheritance Unknown
Diagnosis/Definite SIHIWES
Age/Examination 8.5y
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth_Details -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-01-23 10:07:12 +01:00 (CET)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.