Phenotype #0000242351

Individual ID 00320338
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details pregnancy ureteral dilatation, gestational diabetes; neonatal hypotonia, feeding difficulties; birth 38w, weight +2SD, length 0SD, OFC 0SD; length +2.5SD, OFC 1SD, BMI 15.4 (50th); severe developmental delay/intellectual disability, 12m-sit; not walking; no speech; no epilepsy; no developmental regression; no neurological phenotype; hand stereotypies, sleep disturbance, autism; MRI brain normal; no widely spaced eyes; flat nasal bridge; anteverted nares, short nose; no coarseness; no hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skeletal X-rays; skin Blaschko’s lines; no umbilical hernia; normal eyes; no hearing loss; histiocytofibroma (4y); no recurrent infections
Age/Examination 4y3m (4 years, 3 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2020-11-27 13:30:34 +01:00 (CET)
Date last edited N/A

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