Phenotype #0000254801

Individual ID 00359548
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details birth 34w, BPD 8.5, weight 1.8kg; weight 10kg, height 106.68cm; 12m-stand; no speech; mild intellectual disability; no hypotonia; abnormal outer ear, wide forehead, flared eyebrows and thin upper lip (v-shaped); no microcephaly; hirsutism; no autistic behaviour; no aggression; no genitourinary abnormalities; no sleep disturbance; no scoliosis/kyphosis; no seizures
Inheritance Familial, autosomal recessive
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset 00y00m01d
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2021-03-25 09:30:42 +01:00 (CET)
Date last edited 2021-03-25 09:38:40 +01:00 (CET)

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.