Mutation in CUL4B observed in the present X-linked ID (XLID) case. (a) Partial sequence chromatograms of exon 22 of CUL4B in a patient and his mother. Red arrowheads denote the mutated base. [ncbi.nlm.nih.gov]

Dropped head as the presenting symptom of primary hyperparathyroidism. J Neurol 2002;249(12):1738-9. Lomen-Hoert C, Simmons ML, Dearmond SJ, et al. Adult-onset myopathy: another cause of dropped head. Muscle Nerve 1999;22(8):1146-50. [medigraphic.com]

• Short Stature

  Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia. Am J Med Genet A 2010; 152A: 175–180. [ncbi.nlm.nih.gov]

  […] foot Short feet Small feet [ more ] 0001773 Short stature Decreased body height Small stature [ more ] 0004322 Thick lower lip vermilion Plump lower lip Increased volume of lower lip Prominent lower lip [ more ] 0000179 Tremor 0001337 5%-29% of people [rarediseases.info.nih.gov]

• Abdominal Obesity

  obesity Central obesity 0012743 Delayed speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired [rarediseases.info.nih.gov]

• Sparse Eyebrows

  Craniofacial dysmorphic features, including anterior cowlick, broad forehead, sparse eyebrow, prominent eyes, down-slanting palpebral fissures, low-set ears, flat nasal bridge, short nose, short philtrum, high arched palate and a wide mouth with a prominent [ncbi.nlm.nih.gov]

• Macrocephaly

  […] opening between the eyelids 0000581 Broad-based gait Wide based walk 0002136 Cachexia Wasting syndrome 0004326 Decreased testicular size Small testes Small testis [ more ] 0008734 High palate Elevated palate Increased palatal height [ more ] 0000218 Macrocephaly [rarediseases.info.nih.gov]

• Aggressive Behavior

  behavior Aggressive behaviour Aggression Aggressiveness [ more ] 0000718 Blepharophimosis Narrow opening between the eyelids 0000581 Broad-based gait Wide based walk 0002136 Cachexia Wasting syndrome 0004326 Decreased testicular size Small testes Small [rarediseases.info.nih.gov]

• Seizure

  Seizure 0001250 Simplified gyral pattern 0009879 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 1%-4% of people have these symptoms Abdominal obesity Central obesity 0012743 Delayed speech and language development Deficiency of speech development [rarediseases.info.nih.gov]

• Tremor

  A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. J Med Genet 2000; 37: 663–668. [ncbi.nlm.nih.gov]

  0001852 Scoliosis 0002650 Short foot Short feet Small feet [ more ] 0001773 Short stature Decreased body height Small stature [ more ] 0004322 Thick lower lip vermilion Plump lower lip Increased volume of lower lip Prominent lower lip [ more ] 0000179 Tremor [rarediseases.info.nih.gov]

• Ataxia

  […] development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Distal lower limb amyotrophy 0008944 Gait ataxia [rarediseases.info.nih.gov]

• Delayed Speech and Language Development

  speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language [rarediseases.info.nih.gov]

• Hyperactivity

  […] finger Permanent curving of the pinkie finger 0004209 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Down-sloping shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Hyperactivity [rarediseases.info.nih.gov]

[…] disability, Cabezas typeCUL4B-related X-linked intellectual disability; Cabezas type of X-linked syndromic intellectual disability; Intellectual disability, X-linked, syndromic 15; X-linked intellectual disability, Cabezas type About the Disease Diagnosis & Treatment [rarediseases.info.nih.gov]