Phenotype #0000230579

Individual ID 00303501
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details birth weight –2 SD, OFC –3 SD; postnatal weight –2 SD, OFC –3 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; no seizures; hypotonia, contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; syndactyly, camptodactyly; strabismus, oculomotor palsy; normal skin; no pectus; no scoliosis; no inguinal hernia; patent foramen ovale; hypospadias; no lymphatic malformations; no recurrent infections; sparse hair; sparse eyebrows; prominent forehead; hypertelorism; wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; bilateral ptosis; wise nasal bridge; no flared nostrils; broad nasal tip; no low-hanging columella; underdeveloped midface; normal philtrum; no thin upper vermillion; cupid bow mouth; normal ears; MRI brain white matter signal intensities, partial agenesis corpus callosum, large posterior fossa, cerebellar foliar dysplasia, large inferior cerebellar peduncle, small middle cerebellar peduncle, stretched superior cerebellar peduncle, severe Dandy-Walker malformation, dysplastic thalami, small medulla/pons, cleft in tectum, abnormal superior colliculi, unilateral hippocampal dysplasia
Inheritance Isolated (sporadic)
Age/Examination 6y (6 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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