Clinical Signs and Symptoms
ORPHA:163956 X-linked intellectual disability, Nascimento type
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Delayed gross motor development HP:0002194
- Dry skin HP:0000958
- Low hanging columella HP:0009765
- Poor speech HP:0002465
- Wide mouth HP:0000154
Very frequent
- Abnormality of the cerebral white matter HP:0002500
- Aggressive behavior HP:0000718
- Broad neck HP:0000475
- Chronic constipation HP:0012450
- Depressed nasal bridge HP:0005280
- Downturned corners of mouth HP:0002714
- Echolalia HP:0010529
- Generalized hirsutism HP:0002230
- Hypertelorism HP:0000316
- Hypointensity of cerebral white matter on MRI HP:0007103
- Intellectual disability, severe HP:0010864
- Low posterior hairline HP:0002162
- Macrocephaly HP:0000256
- Micropenis HP:0000054
- Neonatal hyperbilirubinemia HP:0003265
- Pes cavus HP:0001761
- Seizures HP:0001250
- Short foot HP:0001773
- Synophrys HP:0000664
- Thin vermilion border HP:0000233
- Upslanted palpebral fissure HP:0000582
- Ventricular septal defect HP:0001629
- Vesicoureteral reflux HP:0000076
- Wide intermamillary distance HP:0006610
Frequent
- Abnormal hair whorl HP:0010721
- Abnormal vena cava morphology HP:0005345
- Bilateral talipes equinovarus HP:0001776
- Clubbing of toes HP:0100760
- Cryptorchidism HP:0000028
- Deep philtrum HP:0002002
- Developmental cataract HP:0000519
- Double outlet right ventricle HP:0001719
- Hearing impairment HP:0000365
- High forehead HP:0000348
- Hypoplasia of the pons HP:0012110
- Hypospadias HP:0000047
- Intellectual disability, moderate HP:0002342
- Lower extremity joint dislocation HP:0030311
- Lumbar hypertrichosis HP:0011913
- Macrotia HP:0000400
- Midface retrusion HP:0011800
- Mitral stenosis HP:0001718
- Nail dystrophy HP:0008404
- Neutropenia HP:0001875
- Obsessive-compulsive behavior HP:0000722
- Oligohydramnios HP:0001562
- Overlapping toe HP:0001845
- Patchy hypo- and hyperpigmentation HP:0007509
- Patent ductus arteriosus HP:0001643
- Patent foramen ovale HP:0001655
- Peripheral pulmonary artery stenosis HP:0004969
- Preauricular pit HP:0004467
- Pulmonary arterial hypertension HP:0002092
- Recurrent cutaneous abscess formation HP:0100838
- Recurrent ear infections HP:0410018
- Recurrent respiratory infections HP:0002205
- Strabismus HP:0000486
- Tetralogy of Fallot HP:0001636
- Underdeveloped nasal alae HP:0000430
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.