Phenotype #0000315263

Individual ID 00424055
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details maternal pruritic urticarial papules and plaques of pregnancy; birth 41w, C-section; postnatal complications, hyperbilirubinemia; developmental delay (HP:0012758)/severe intelletual disability (HP:0001249); neurodevelopmental regression (HP:0002376) , lost single words; seizures (HP:0001250), (developed in early childhood); currently non-verbal; hypotonia (HP:0001319); gait disturbance (HP:0001288), non-ambulatory; behavioral abnormalities (HP:0000708); autism/autistic-like behavior (HP:0000717); no abnormal myelination (-HP:0012447); no structural brain anomalies; astigmatism (HP:0000483); no nystagmus (-HP:0000639); strabismus (HP:0000486), other dysmorphic features; hyperopia (HP:0000540); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), other dysmorphic features; gastrointestinal abnormality (HP:0011024), GERD, constipation, G-tube; abnormality of the immune system (HP:0002715), recurrent chest infections (aspiration)
Inheritance Isolated (sporadic)
Age/Examination 10y (10 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2022-11-16 15:06:22 +01:00 (CET)
Date last edited N/A

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