short stature

GAPO Syndrome

Clinical Characteristics
Ocular Features: 

Progressive optic atrophy is considered part of this syndrome but it is not a consistent feature.  One patient with the suspected diagnosis had papilledema while other individuals may have congenital glaucoma, buphthalmos, band keratopathy, and keratoconus.  White eyelashes have been described.  Myelinated nerve retinal nerve fibers may be prominent.

Systemic Features: 

This is a rare congenital disorder with so far incomplete phenotypic delineation. The diagnosis can be made soon after birth from the general facial and body morphology.  The dysmorphism is secondary to marked bone growth retardation and metaphyseal dysplasia, resulting in a flat midface, frontal bossing, micrognathism, chest deformities, and vertebral anomalies. Psychomotor retardation is common but the extent of cognitive deficits is unknown.  The permanent teeth may begin to develop but fail to erupt (pseudoanodontia). Even primary dentition is often abnormal.  Alopecia is a feature although some individuals do have sparse body hair, at least for a period of time.  Anomalous blood vessels such as dilated scalp veins are sometimes evident.   Hypogonadism has been reported in both sexes.  Individuals are subject to recurrent ear and respiratory infections. 

Genetics

GAPO occurs in both sexes.  Homozygous mutations in the ANTXR1 gene (2p13.3) are responsible for this disorder.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

Treatment is directed at individual problems.  Prompt treatment of respiratory infections is important.

References
Article Title: 

Mutations in ANTXR1 cause GAPO syndrome

Stranecky V, Hoischen A, Hartmannova H, Zaki MS, Chaudhary A, Zudaire E, Noskova L, Baresova V, Pristoupilova A, Hodanova K, Sovova J, Hulkova H, Piherova L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martasek P, Baxova A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S. Mutations in ANTXR1 cause GAPO syndrome. Am J Hum Genet. 2013 May 2;92(5):792-9.

PubMed ID: 
23602711

Ophthalmic findings in GAPO syndrome

Ilker SS, Ozturk F, Kurt E, Temel M, Gul D, Sayli BS. Ophthalmic findings in GAPO syndrome. Jpn J Ophthalmol. 1999 Jan-Feb;43(1):48-52.

PubMed ID: 
10197743

Williams Syndrome

Clinical Characteristics
Ocular Features: 

Blue irides (77%) and a lacey or stellate pattern (74%) of the iris are characteristic.  The stroma appears coarse with radial or cartwheel striations.  The iris collarette is usually absent or anomalous.  Features of the Peters' anomaly may be present.  The periorbital tissues are described as 'full' and prominent.  Strabismus (usually esotropia) occurs in more than half of patients.  Retinal vessel tortuosity is present in 22% of patients.  Cataracts may be found in younger individuals but are uncommon. Hyperopia is the most common refractive error.  Keratoconus has been described in at least 3 patients.

Systemic Features: 

The phenotype is variable, likely depending upon the size of the deletion.  Cardiovascular disease, primarily hypertension and large vessel stenosis, are among the most important features.  The elastin arteriopathy lead to thickened arterial walls with peripheral pulmonary stenosis and supravalvular aortic stenosis.  The facies is considered unique with bitemporal narrowing, a wide mouth, full lips, malocclusion, small jaw, and prominent earlobes.  The teeth are small and widely spaced.  Connective tissue abnormalities include joint hyperextensibility, hernias, lax skin, hypotonia, and bowel/bladder diverticulae.  Small birth size is common and infants often fail to thrive but at puberty patients can experience a growth spurt.  Ultimate height in adults is usually in the third centile.

Vocal cord anomalies and paralysis can result in a hoarse voice.  A sensorineural hearing loss is common among adults but hyperacusis is often present in young children.

Hypercalcemia and hypercalciuria are common and some (10%) have hypothyroidism.

Most individuals have some cognition difficulties and delays but normal intelligence has also been reported.  Patient personalities consist of anxiety, attention deficit disorder, marked friendliness and a high level of empathy.  Visiospatial construction is often impaired.  Most adults are unable to live independently.

Genetics

This is a deletion syndrome but included in this database because the major features are due to the loss of a single gene (ELN).  The deletion segment consists of 1.4-1.8 Mb at 7q11.23 containing as many as 28 genes.   Most cases occur sporadically but parent-child transmission and affected siblings have been reported.  The recurrence risk is low.

Increased tortuosity of the retinal arterioles is also a feature of Fabry disease (301500) and of a condition known as isolated retinal arteriolar tortuosity (611773, 180000).

Treatment
Treatment Options: 

Feeding issues should be addressed early in infants who fail to thrive.  Early intervention with speech and physical therapy plus special education can be helpful.  Psychological evaluations may help in managing behavioral issues.

Hypertension can often be managed medically but surgery may be required for vascular stenoses.   Hypercalcemia and hypothyroidism often respond to medical therapy. Strabismus, vessel narrowing, and valvular malfunctions can be treated surgically.

References
Article Title: 

The iris in Williams syndrome

Holmstrom G, Almond G, Temple K, Taylor D, Baraitser M. The iris in Williams syndrome. Arch Dis Child. 1990 Sep;65(9):987-9.

PubMed ID: 
2221973

Ocular findings of Williams' syndrome

Hotta Y, Kishishita H, Wakita M, Inagaki Y, Momose T, Kato K. Ocular findings of Williams' syndrome. Acta Paediatr Scand. 1990 Aug-Sep;79(8-9):869-70.

PubMed ID: 
2239289

Majewski Syndrome

Clinical Characteristics
Ocular Features: 

No clinical information is available on the ocular features in this disorder.  The fundi have been described as normal in one patient but postmortem histopathology at 8 weeks revealed optic nerve edema with segmental axonal dropout and loss of myelin.  The nerve fiber layer of the retina was prominent with some proliferation of glial tissue.  Early nuclear sclerosis was also present.

Systemic Features: 

This disorder results from a dysgenesis of the cilia and is one of a group of short rib-polydactyly disorders.  Congenital anomalies are found in multiple organs including heart, lungs, skeleton, intestines, genitalia, pancreas, liver, and kidneys.  The diagnostic characteristic of SRPS type II is extreme shortening of the tibia in addition to short ribs in this type of short-limbed dwarfism.

Midline facial clefting, especially cleft lip, is common.  The epiglottis and lungs are often hypoplastic and the kidneys are polycystic.  Polydactyly and polysyndactyly of both pre- and postaxial types are usually present.  Most neonates with SRPS type II do not live beyond infancy.

Genetics

This is an autosomal recessive condition resulting from homozygous mutations in the NEK1 gene (4q33), or, rarely, from digenic biallelic mutations in NEK1 and DYNC2H1 (11q22.3).

Another condition with some of the same features leading to respiratory distress is asphyxiating thoracic dysplasia 1 (208500), or Jeune syndrome.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No effective treatment is available for this condition but surgical treatment could be considered for specific anomalies.

References
Article Title: 

NEK1 mutations cause short-rib polydactyly syndrome type majewski

Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stoss H, Beinder E, Abou Jamra R, Ekici AB, Schroder-Kress N, Aigner T, Kirchner T, Reis A, Brandst?SStter JH, Rauch A. NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet. 2011 Jan 7;88(1):106-14.

PubMed ID: 
21211617

Retinitis Pigmentosa, Deafness, Mental Retardation and Hypogonadism

Clinical Characteristics
Ocular Features: 

Only two families with this presumed disorder have been reported.  The retinal picture resembles retinitis pigmentosa with ‘bone spicule’ pigment clumps, vascular attenuation, and pale optic nerve heads.  Cataracts and nystagmus have been observed.  Vision is usually limited to light perception by the middle of the first decade of life.

Systemic Features: 

Small testes and gynecomastia are found in males while females have oligo- or amenorrhea.  The hands and feet appear broad and the face has a coarse appearance with a depressed nasal bridge and a broad nose.  Insulin-resistant diabetes and hyperinsulinemia are present.  Acanthosis nigricans, keloids, obesity, and hearing loss are also features.  All patients have significant developmental delays and evident mental retardation.

Genetics

No locus has been identified although autosomal recessive inheritance seems likely: the parents in one family were first cousins and there was no parent to child transmission.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

There is no effective treatment although cataract surgery might be considered if lens opacities are visually significant.

References
Article Title: 

Asphyxiating Thoracic Dysplasia 1

Clinical Characteristics
Ocular Features: 

This is a genetically and clinically heterogeneous condition for which the nosology remains to be worked out.  Not all patients have ocular disease but those who survive infancy may have a pigmentary retinopathy resembling retinitis pigmentosa.  In fact, a 5 year old presented with symptoms of visual loss and night blindness only.  The severeity of the systemic malformations has so far precluded a full description of the ocular phenotype.

Systemic Features: 

The most life-threatening and characteristic systemic feature of ATD is short-ribbed thoracic constriction with respiratory insufficiency.  The chest is small and narrow and sometimes described as bell-shaped.  This deformity can lead to death by asphyxiation, and is a serious risk during infancy.  Other individuals live to adulthood and may have only minimal respiratory difficulties.  Patients who survive childhood can develop cystic renal and hepatic disease.  Pancreatic fibrosis has also been reported.  Brachydactyly and postaxial polydactyly are sometimes present and involve the feet more commonly than the hands.  Short stature secondary to short limbs is frequently noted.

Genetics

Jeune syndrome, or at least some forms of it, is an autosomal recessive condition.  Consanguinity is often present.  A locus (15q13) containing homozygous mutations in ATD has been proposed as one candidate site.  There is considerable genetic heterogeneity with at least 5 types described, all with mutations in different genes.

Another disorder with some similar features causing respiratory distress is Majewski syndrome (263520).

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

Assisted ventilation can be lifesaving in milder cases.  Thoracic reconstruction has also been helpful in a few individuals.  However, careful patient selection is necessary since some patients have severe pulmonary hypoplasia with underdeveloped alveoli. Ursodeoxycholic acid may slow the progression of the liver disease.

References
Article Title: 

Orofaciodigital Syndrome IX

Clinical Characteristics
Ocular Features: 

Multiple forms of orofaciodigital syndrome are recognized but this one (type IX, originally reported as VIII) is of ophthalmological interest because of the retinal anomalies.  Gurrieri’s original report calls these “retinochoroideal lacunae of colobomatous origin” similar to those found in Aicardi syndrome (304050).  These were further described as hypopigmented and atrophic appearing.  Synophyrs and hypertelorism have been noted and the ears may be low-set.

Systemic Features: 

Facial, oral, digital, psychomotor delays, and skeletal anomalies are major systemic features of OFD IX.  The oral manifestations include a high arched palate, cleft lip (sometimes subtle), bifid tongue, hemartomas on the tongue, abnormal tongue frenulation, and dental anomalies (supernumerary teeth).  Digital anomalies consist of mild syndactyly and occasionally polydactyly, brachydactyly, and bifid large toes.  Some patients have short stature.  Psychomotor delay is common and some patients have been described as mentally retarded.

Genetics

This is most likely an autosomal recessive condition since multiple sibs of both sexes have been identified.  Nothing is known of the locus or specific mutation.

Gurrieri’s name is attached to another syndrome (Gurrieri syndrome [601187]) with entirely different oculoskeletal features.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

Specific malformations may need correction but there is no treatment for the overall disease.

References
Article Title: 

Gurrieri Syndrome

Clinical Characteristics
Ocular Features: 

Tapetoretinal degeneration has been described in several patients.  Some patients have keratoconus with lens and corneal opacities.  Visual acuities have not been reported.  The full ocular phenotype must be considered unknown since most patients have not had full ophthalmic evaluations.

Systemic Features: 

Features of an osteodysplasia are among the most striking in this syndrome.  Short stature, brachydactyly, delayed bone age, osteoporosis, and hypoplasia of the acetabulae and iliac alae are usually present.  Birth weight is often low.  Joints may be hyperflexible as part of the generalized hypotonia. The eyes are deep-set, the nasal bridge is prominent, the midface is flat, and the supraorbital ridges are prominent giving the face a rather coarse look.  Prognathism with a prominent lower lip and dental malocclusion reinforce this appearance.  Seizures beginning in early childhood may be difficult to control.  Most patients have severe psychomotor retardation and never acquire speech.

Genetics

The genetics of this familial disorder remain unknown.  No locus or mutation has been identified but one patient had an absent maternal allele of the proximal 15q region as found in Angelman syndrome.

Orofaciodigital syndrome IX (258865) is another autosomal recessive syndrome sometimes called Gurrieri syndrome.  In Gurrieri’s original description of two brothers, chorioretinal lacunae, similar to those seen in Aicardi syndrome (304050), were present.  The systemic features are dissimilar, however.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment is known.

References
Article Title: 

Mowat-Wilson Syndrome

Clinical Characteristics
Ocular Features: 

Most reports of Mowat-Wilson disorders provide only incomplete ocular findings and the full phenotype remains to be described.  Most of the reported findings are part of the facial phenotype, such as downward slanting palpebral fissures, and 'wedge-shaped' eyebrows with the medial portion visibly wider than the temporal region.  Hypertelorism, strabismus and telecanthus have also been noted.  However, optic nerve atrophyor aplasia, RPE atrophy, microphthalmia, ptosis, and cataracts are sometimes present while strabismus is more common.  Iris and other uveal colobomas may be present and at least one patient has been reported with retinal aplasia.  There may be considerable asymmetry in the features among the two eyes.

Systemic Features: 

This is a highly complex dysmorphic developmental disorder with unusual progression of facial features.  Birth weight and length are usually normal but later there is general somatic and mental growth delay with microcephaly (pre- and post natal), short stature, intellectual disability, and epilepsy (70%).  Hypotonia has been noted at birth.  A significant proportion (~50%) of patients have Hirschsprung disease with megacolon.  Congenital heart defects are common, many involving septal openings.  Hypospadias is often present with or without other genitourinary anomalies.  Teeth are often crowded and crooked.  The earlobes may be flattened and may have a central depression.

The facial features are present in early childhood but as they mature the upper half of the nasal profile becomes convex, while the nasal tip becomes longer and overhangs the philtrum.  The eyes appear more deeply set.  The chin lengthens and prognathism becomes apparent.  IQ levels cannot be determined but many individuals exhibit behavioral or emotional disturbances.

Genetics

Heterozygous mutations in ZEB2 (2q22.3) are responsible for most cases (81%) of this disorder.  A large number of molecular mutations, many of the nonsense type, have been reported. About 2-4% of patients have cytogenetic alterations involving the 2q22 region.

Another disorder with microcephaly, intellectual disability and Hirschsprung disease is Goldberg-Shprintzen syndrome (609460) with mutations in the KIAA1279 gene.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

Treatment may be directed at specific defects but there is no treatment for the general disorder. Individuals can live to adulthood. Treatment is largely symptomatic.  Physical and speech treatment can be helpful if initiated early.

References
Article Title: 

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and

Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S,
Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C,
Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G,
Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshoj TD, Epifanio R,
Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Gronborg S, Iodice A,
Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti
A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Moller RS, Muschke P,
Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I,
Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S,
Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G,
Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS,
Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L.
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and
recommendations for care
. Genet Med. 2018 Jan 4. doi: 10.1038/gim.2017.221. [Epub
ahead of print].

PubMed ID: 
29300384

Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome

Bourchany A, Giurgea I, Thevenon J, Goldenberg A, Morin G, Bremond-Gignac D, Paillot C, Lafontaine PO, Thouvenin D, Massy J, Duncombe A, Thauvin-Robinet C, Masurel-Paulet A, Chehadeh SE, Huet F, Bron A, Creuzot-Garcher C, Lyonnet S, Faivre L. Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. Am J Med Genet A. 2015 Apr 21. [Epub ahead of print]

PubMed ID: 
25899569

The behavioral phenotype of Mowat-Wilson syndrome

Evans E, Einfeld S, Mowat D, Taffe J, Tonge B, Wilson M. The behavioral phenotype of Mowat-Wilson syndrome. Am J Med Genet A. 2012 Feb;158A(2):358-66. doi: 10.1002/ajmg.a.34405.

PubMed ID: 
22246645

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature

Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G. Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. Am J Med Genet A. 2009 Mar;149A(3):417-26. Review.

PubMed ID: 
19215041

Clinical and mutational spectrum of Mowat-Wilson syndrome

Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, K?SS?SSri?SSinen H, Karstens S, Krantz I, Mannhardt A, Medne L, M?ocke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A. Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet. 2005 Apr-Jun;48(2):97-111

PubMed ID: 
16053902

CHARGE Syndrome

Clinical Characteristics
Ocular Features: 

Both ocular and systemic abnormalities are highly variable, even within families.  Among the most common ocular features are unilateral or bilateral ocular colobomas (80%).  These involve the iris most frequently but they may extend into the posterior chamber and rarely involve the optic nerve.  A significant number of patients with uveal colobomas have an associated microphthalmia.  The lid fissures often slant downward.  A few patients have congenital cataracts, optic nerve hypoplasia, persistent hyperplastic vitreous, and strabismus.

Systemic Features: 

A wide variety of systemic anomalies have been reported.  Congenital heart defects (primarily septal) and CNS malformations are among the most common features, reported in 85% and 55% respectively.  Tetralogy of Fallot is considered by some to be the most common heart malformation.  Growth and mental retardation are found in nearly 100%.  The pinnae are often set low and hearing loss is common.  Ear anomalies, both internal and external, have been described in 91%, and some degree of conduction and/or sensorineural deafness is present in 62%.  Choanal atresia is found in at least 57% of patients.  This along with cleft palate and sometimes esophageal atresia or reflux often contributes to feeding difficulties which are common in all age groups.  Cranial nerve deficits are seen in 92% of patients and more than one nerve is involved in nearly 3 of 4 patients.  The most common cranial nerve defects involve numbers IX, X, VIII, and V.  Facial palsies are an especially important feature. Hypogonadotropic hypogonadism and underdevelopment of the external genitalia are often seen, especially in males.  One-third of patients have limb anomalies and many have short digits.  The facies is considered by some as characteristic with a square configuration, broad forehead, flat midface, and a broad nasal bridge.

Infant and childhood morbidity is high with feeding difficulties a major cause of death.

Genetics

Many cases occur sporadically but family patterns consistent with autosomal dominant inheritance are common as well.  Advanced paternal age may be a factor in de novo cases.  Sequence variants of multiple types have been reported in the CHD7 gene (8q12.1-q12.2) in more than 90% of familial patients.  The gene product is a DNA –binding protein that impacts transcription regulation via chromatin remodeling.

Kallmann syndrome (hypogonadotropic hypogonadism and anosmia) has been considered to be allelic to CHARGE syndrome but may be the same disorder since mutations in CHD7 are responsible and many patients have other features characteristic of the syndrome described here.

Several patients with classical features of the CHARGE syndrome and de novo mutations in the SEMA3E gene (7q21.11) have also been described.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

Treatment is lesion dependent but focused on airway, feeding, and cardiac defects at least initially.  Regular ophthalmologic and audiologic evaluations are recommended beginning in infancy.  Evidence for hypogonadism should be evaluated if puberty is delayed.  Nutrition must be monitored especially in those with serious feeding problems.  Hearing devices, with speech, occupational, and education therapy may be required.

References
Article Title: 

Coloboma, Ptosis, Hypertelorism, and Global Delay

Clinical Characteristics
Ocular Features: 

The ocular phenotype includes ptosis, hypertelorism, iris coloboma and prominent epicanthal folds with epicanthus inversus.  The coloboma may be unilateral and involve other portions of the uveal tract. The orbits have been described as shallow.  At least one patient has been described as having microphthalmia and microcornea.

Systemic Features: 

The systemic features reported include severe global delay, a broad nasal bridge, and short stature.  Physical growth delay, mental retardation, short neck, low-set ears, and low posterior hairline have been noted.  Males may have a micropenis and undescended testicles.  The pinnae may be malformed and rotated posteriorly. Several patients had a hearing deficit.

CT scans have shown microcephaly with pachygyria and or even virtual agyria of the frontal, temporal, and parietal lobes.

Genetics

This condition is caused by heterozygous mutations in the ACTG1 gene (17q25.3) and therefore transmitted in an autosomal dominant pattern.  Sibs but no parental consanguinity has been reported.  Both sexes are affected.

Mutations in the same gene are responsible for a somewhat similar condition known as Baraister-Winter 2 syndrome (614583).

Temtamy syndrome (218340) has some similar features but is caused by mutations in C12orf57 (12p13).  In addition to microphthalmia and colobomas, intractable seizures, global delay and abnormalities of the corpus callosum are present.

Several patients that may have had this syndrome have had pericentric inversions of chromosome 2: inv(2)(p12q14).  The PAX8 gene maps to the distal breakpoint of this inversion and may play a role as the location of a recessive mutation or as part of a submicroscopic inversion.  No parent-child transmission has been reported.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

No treatment is known.

References
Article Title: 

Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures

Platzer K, Huning I, Obieglo C, Schwarzmayr T, Gabriel R, Strom TM, Gillessen-Kaesbach G, Kaiser FJ. Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. Am J Med Genet A. 2014 May 5. [Epub ahead of print].

PubMed ID: 
24798461

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