Phenotype #0000230569

Individual ID 00303491
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details birth weight –2 SD; OFC –2 SD; postnatal growth deficiency; developmental delay/initellectual disability, no IQ testing, attention-deficit hyperactivity disorder; no seizures; hypotonia; myopia; café au lait spots; scoliosis; inguinal hernia; unilateral renal agenesis; no lymphatic malformations; recurrent infections, recurrent otitis media; prominent forehead; wide palpebral fissures; unilateral ptosis; high narrow nasal bridge; no flared nostrils; broad nasal tip; low-hanging columella; underdeveloped midface; normal philtrum; no thin upper vermillion; cupid bow mouth; large ears; synophrys, prominent metopic suture; MRI brain no features
Inheritance Isolated (sporadic)
Age/Examination 10y (10 years)
Age/Diagnosis -
Age/Onset -
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 2020-06-15 09:56:59 +02:00 (CEST)
Date last edited N/A

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