Phenotype #0000230311

Individual ID	00303227
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	see paper; ..., severe global developmental delay; mild muscular hypotonia; grasp, rolling over, sitting unsupported, standing with support; no speech; no seizures; reduced pain sensation; self-mutilation; no crying without tears; no reduced sweating; no fever without focus/temperature dysregulation; repeated neonatal episodes of apnea and/or desaturations; thyroid dysfunction; history hypoglycemia; growth hormone deficiency; (pan)hypopituitarism; low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; no obstipation; diarrhea; dysphagia, gastroesophageal reflux, G-tube; clinodactyly, mild arthrogryposis (contractures at the wrists, elbows, hips and knees), partial hip dysplasia; micropenis with fused and flat scrotum, undescended testes; no hearing loss; strabismus; bitemporal narrowing with enophthalmos, hypoplastic alae, short philtrum, small mouth, high narrow palate, mild retrognathia, micrognathia, short neck; autism; minimal cerebrospinal fluid prominence within posterior fossa versus small arachnoid cyst; no delayed myelination; no pituitary anomalies
Inheritance	Familial, autosomal recessive
Age/Examination	07y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-08 15:20:20 +02:00 (CEST)
Date last edited	2020-08-23 11:00:04 +02:00 (CEST)