Phenotype #0000242357

Individual ID 00320344
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details pregnancy gestational diabetes; 4m-hepatomegaly; birth 41w, weight –0.5SD, length -1SD, OFC –1SD; length -4SD, OFC -1SD, BMI 23; severe developmental delay/intellectual disability; not walking; no speech; <1y-epilepsy; no developmental regression; spastic tetraplegia, ataxic gait; autistic behaviour (stereotypies, self-injuries) sleep disturbance; MRI brain unspecific changes in paraventricular myelination, generalised cerebral atrophy, retrocerebellar arachnoid cyst; flat face; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; hip dysplasia; genu valgum; no club feet; skeletal X-rays advanced bone age; normal skin pigmentation; umbilical hernia; strabismus, severe myopia, retinal degeneration; no hearing loss; clubbing of fingers, splenomegaly, anteriorly displaced anus, kidney asymmetry; recurrent lung infections
Age/Examination 22y (22 years)
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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