Micrencephaly - corpus callosum agenesis - abnormal genitalia

General Information (adopted from Orphanet):

Synonyms, Signs: PROUD SYNDROME
ACC WITH ABNORMAL GENITALIA
Proud-Levine-Carpenter syndrome
Number of Symptoms 51
OrphanetNr: 2508
OMIM Id: 300004
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: ARX-related epileptic encephalopathy
 -Rare genetic disease
 -Rare neurologic disease
Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature
 -Rare genetic disease
Syndrome with corpus callosum agenesis /dysgenesis as a major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Syndromic urogenital tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare urogenital disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001090) Large eyes 20 / 7739
2
 (HPO:0000648) Optic atrophy 238 / 7739
3
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
4
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
5
 (HPO:0000505) Visual impairment 297 / 7739
6
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
7
 (HPO:0001319) Neonatal hypotonia 101 / 7739
8
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
9
 (HPO:0002478) Progressive spastic quadriplegia 7 / 7739
10
 (HPO:0002510) Spastic tetraplegia 54 / 7739
11
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
12
 (HPO:0002445) Tetraplegia 26 / 7739
13
 (HPO:0001263) Global developmental delay 853 / 7739
14
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
15
 (HPO:0010864) Intellectual disability, severe 120 / 7739
16
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
17
 (HPO:0001182) Tapered finger 93 / 7739
18
 (HPO:0001238) Slender finger Frequent [Orphanet] 23 / 7739
19
 (HPO:0001845) Overlapping toe 18 / 7739
20
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
21
 (HPO:0000294) Low anterior hairline 52 / 7739
22
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
23
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
24
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
25
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
26
 (HPO:0011362) Abnormal hair quantity Frequent [Orphanet] 92 / 7739
27
 (HPO:0000664) Synophrys 112 / 7739
28
 (HPO:0009553) Abnormality of the hairline Frequent [Orphanet] 30 / 7739
29
 (HPO:0001007) Hirsutism 91 / 7739
30
 (HPO:0001795) Hyperconvex nail 13 / 7739
31
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
32
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
33
 (HPO:0000028) Cryptorchidism 347 / 7739
34
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
35
 (HPO:0000336) Prominent supraorbital ridges 45 / 7739
36
 (HPO:0000187) Broad alveolar ridges 14 / 7739
37
 (HPO:0000218) High palate 356 / 7739
38
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
39
 (HPO:0000110) Renal dysplasia 44 / 7739
40
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
41
 (HPO:0000089) Renal hypoplasia 78 / 7739
42
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
43
 (HPO:0001371) Flexion contracture 220 / 7739
44
 (HPO:0003121) Limb joint contracture 8 / 7739
45
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
46
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
47
 (HPO:0001417) X-linked inheritance 173 / 7739
48
 (OMIM) Auditory impairment 1 / 7739
49
 (OMIM) Developmental delay, severe 13 / 7739
50
 (OMIM) Seizures, infantile onset 4 / 7739
51
 (OMIM) Tapered digits 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Proud syndrome is an X-linked developmental disorder characterized by agenesis of the corpus callosum, severe mental retardation, seizures, and spasticity. Males are severely affected, whereas females may be unaffected or have a milder phenotype (Proud et al., 1992). ...
Clinical Description OMIM Proud et al. (1992) reported on 4 generations in a family in which 3 living males, 3 males who died in infancy, and 3 females had neurologic impairment and agenesis of the corpus callosum. Manifestations in the surviving ...
Genotype-Phenotype Correlations OMIM In a review of 29 males with ARX mutations, Kato et al. (2004) found that those with premature termination or nonsense mutations had brain malformation syndromes, including XLAG and Proud syndrome, whereas those with expansion of the polyalanine ...
Molecular genetics OMIM Kato et al. (2004) identified mutations in the ARX gene in 20 patients with brain and genital malformations, including the 3 males reported by Proud et al. (1992), who had a thr333-to-asn mutation (T33N; 300382.0015). Two of the ...