Phenotype #0000238606

Individual ID	00314848
Associated disease	?
Diagnosis/Initial	hereditary spastic paraparesis
Diagnosis/Definite	HSAN9
Phenotype details	see paper; ..., short stature (HP:0004322); microcephaly (HP:0000252); abnormal facial shape (HP:0001999),round face, low anterior hairline, dental crowding, short broad neck, hypomimic; brachycephaly (HP:0000248); global developmental delay (HP:0001263); severe intellectual disability (HP:0010864); seizures (HP:0001250), short generalized tonic-clonic seizures; hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); muscular hypertonia (HP:0001276); gait ataxia (HP:0002066); dysarthria (HP:0001260); abnormality autonomic nervous system (HP:0002270), recurrent episodes of decreased alertness, aggravation of hypotonia and inefficient respiration requiring mechanical ventilation; abnormal systemic blood pressure (HP:0030972); peripheral neuropathy (HP:0009830); no skin ulcer (-HP:0200042); transient severe encephalopathy with intermittent elevation of transaminases; normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); no aspiration (-HP:0002835); central hypoventilation (HP:0007110); gastroesophageal reflux at infancy (HP:0002020); no vomiting (-HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); very frequent central apneas (>90/hr) accompanied by hypoxemia and poor response to oxygen; non-invasive ventilation; intermittent elevation of transaminases (HP:0001939)
Inheritance	Familial, autosomal recessive
Age/Examination	-
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	2020-10-19 19:13:33 +02:00 (CEST)
Date last edited	2024-02-23 14:34:32 +01:00 (CET)