X-linked immunoneurologic disorder

MedGen UID:: 341162
•Concept ID:: C1848144
•: Disease or Syndrome

Synonyms:	Neonatal death immune deficiency; Woods Black Norbury syndrome; X-linked immunoneurological disorder
SNOMED CT:	X-linked immunoneurologic disorder (719827008); Woods Black Norbury syndrome (719827008)
Modes of inheritance:	X-linked dominant inheritance MedGen UID: 376232 •Concept ID: C1847879 • Finding Source: Orphanet A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. See: This record X-linked dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0010243
OMIM®:	300076
Orphanet:	ORPHA2571

Definition

A syndrome with characteristics of immune deficiency and neurological disorders in females and neonatal death in males. The syndrome has been described in only one family with nine affected individuals (five males and four females) spanning two generations. Symptomatic females present slowly progressive proximal muscle weakness, leg hyperreflexia, pes cavus, increased muscle tone in the legs, poor bladder function, static reduced night vision and frequent sinopulmonary infections associated with IgG2 deficiency. Males present with low birth weight and severe hypotonia that leads to death in the neonatal period. The gene locus has been mapped to Xq26-qter. [from SNOMEDCT_US]

Clinical features

From HPO

Functional abnormality of the bladder

MedGen UID:: 812913
•Concept ID:: C3806583
•: Finding

Dysfunction of the urinary bladder.

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Small for gestational age

MedGen UID:: 65920
•Concept ID:: C0235991
•: Finding

Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.

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Spastic paraplegia

MedGen UID:: 20882
•Concept ID:: C0037772
•: Disease or Syndrome

Spasticity and weakness of the leg and hip muscles.

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Brisk reflexes

MedGen UID:: 382164
•Concept ID:: C2673700
•: Finding

Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.

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Progressive proximal muscle weakness