Phenotype #0000239683

Individual ID	00315938
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Phenotype details	sit-5–6m, walk-13m; speech delay, poor articulation; intellectual disability; no seizures; 3+ brisk patellars; abnormal gait, reported likely due to tibial torsion; attention deficit and hyperactivity, anxiety; snoring, obstructive sleep apnea; blue irides with stellate pattern; bilateral iris and lentincular coloboma; deep set eyes, ptosis, synophyrs, arched heavy eyebrows, large looking palpebral fissures; myopia with astigmatism, unilateral strabismic amblyopia, resolved exotropia; microcephaly, soft cartilage, cupped ears, submucous cleft palate, torus palatinus, small uvula, wide spaced/irregular/small teeth, supraorbital ridges; sacral dimple, genu recurvatum, tibial torsion, pes planus, fifth finger clinodactyly, hyperextension in small joints of hands: umbilical hernia, ankyloglossia, patent foramen ovale, tapered fingers, small nails, prominent finger pads, deep hand creases; Chiari I malformation in mother and maternal aunt
Age/Examination	6y7m (6 years, 7 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-10-30 15:23:09 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD